Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2008679927', 'doi': 'https://doi.org/10.1073/pnas.95.14.8181', 'title': 'Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome', 'display_name': 'Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome', 'publication_year': 1998, 'publication_date': '1998-07-07', 'ids': {'openalex': 'https://openalex.org/W2008679927', 'doi': 'https://doi.org/10.1073/pnas.95.14.8181', 'mag': '2008679927', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/9653161', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/20950'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1073/pnas.95.14.8181', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S125754415', 'display_name': 'Proceedings of the National Academy of Sciences', 'issn_l': '0027-8424', 'issn': ['0027-8424', '1091-6490'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320052', 'host_organization_name': 'National Academy of Sciences', 'host_organization_lineage': ['https://openalex.org/P4310320052'], 'host_organization_lineage_names': ['National Academy of Sciences'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'green', 'oa_url': 'https://europepmc.org/articles/pmc20950?pdf=render', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5054921655', 'display_name': 'Barbara U. Fitzky', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I190249584', 'display_name': 'Universität Innsbruck', 'ror': 'https://ror.org/054pv6659', 'country_code': 'AT', 'type': 'education', 'lineage': ['https://openalex.org/I190249584']}], 'countries': ['AT'], 'is_corresponding': False, 'raw_author_name': 'Barbara U. Fitzky', 'raw_affiliation_strings': ['Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea'], 'affiliations': [{'raw_affiliation_string': 'Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea', 'institution_ids': ['https://openalex.org/I190249584']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5073501081', 'display_name': 'Martina Witsch‐Baumgartner', 'orcid': 'https://orcid.org/0000-0002-9379-5345'}, 'institutions': [{'id': 'https://openalex.org/I190249584', 'display_name': 'Universität Innsbruck', 'ror': 'https://ror.org/054pv6659', 'country_code': 'AT', 'type': 'education', 'lineage': ['https://openalex.org/I190249584']}], 'countries': ['AT'], 'is_corresponding': False, 'raw_author_name': 'Martina Witsch-Baumgartner', 'raw_affiliation_strings': ['Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea'], 'affiliations': [{'raw_affiliation_string': 'Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea', 'institution_ids': ['https://openalex.org/I190249584']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5007518185', 'display_name': 'Martin Erdel', 'orcid': 'https://orcid.org/0000-0001-6757-4197'}, 'institutions': [{'id': 'https://openalex.org/I190249584', 'display_name': 'Universität Innsbruck', 'ror': 'https://ror.org/054pv6659', 'country_code': 'AT', 'type': 'education', 'lineage': ['https://openalex.org/I190249584']}], 'countries': ['AT'], 'is_corresponding': False, 'raw_author_name': 'Martin Erdel', 'raw_affiliation_strings': ['Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea'], 'affiliations': [{'raw_affiliation_string': 'Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea', 'institution_ids': ['https://openalex.org/I190249584']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5064357631', 'display_name': 'Joon No Lee', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I190249584', 'display_name': 'Universität Innsbruck', 'ror': 'https://ror.org/054pv6659', 'country_code': 'AT', 'type': 'education', 'lineage': ['https://openalex.org/I190249584']}], 'countries': ['AT'], 'is_corresponding': False, 'raw_author_name': 'Joon No Lee', 'raw_affiliation_strings': ['Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea'], 'affiliations': [{'raw_affiliation_string': 'Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea', 'institution_ids': ['https://openalex.org/I190249584']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5006448477', 'display_name': 'Young‐Ki Paik', 'orcid': 'https://orcid.org/0000-0002-8146-1751'}, 'institutions': [{'id': 'https://openalex.org/I190249584', 'display_name': 'Universität Innsbruck', 'ror': 'https://ror.org/054pv6659', 'country_code': 'AT', 'type': 'education', 'lineage': ['https://openalex.org/I190249584']}], 'countries': ['AT'], 'is_corresponding': False, 'raw_author_name': 'Young-Ki Paik', 'raw_affiliation_strings': ['Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea'], 'affiliations': [{'raw_affiliation_string': 'Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea', 'institution_ids': ['https://openalex.org/I190249584']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5041210319', 'display_name': 'Hartmut Glossmann', 'orcid': 'https://orcid.org/0000-0002-7392-3266'}, 'institutions': [{'id': 'https://openalex.org/I190249584', 'display_name': 'Universität Innsbruck', 'ror': 'https://ror.org/054pv6659', 'country_code': 'AT', 'type': 'education', 'lineage': ['https://openalex.org/I190249584']}], 'countries': ['AT'], 'is_corresponding': False, 'raw_author_name': 'Hartmut Glossmann', 'raw_affiliation_strings': ['Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea'], 'affiliations': [{'raw_affiliation_string': 'Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea', 'institution_ids': ['https://openalex.org/I190249584']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5056429133', 'display_name': 'Gerd Utermann', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I190249584', 'display_name': 'Universität Innsbruck', 'ror': 'https://ror.org/054pv6659', 'country_code': 'AT', 'type': 'education', 'lineage': ['https://openalex.org/I190249584']}], 'countries': ['AT'], 'is_corresponding': False, 'raw_author_name': 'Gerd Utermann', 'raw_affiliation_strings': ['Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea'], 'affiliations': [{'raw_affiliation_string': 'Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea', 'institution_ids': ['https://openalex.org/I190249584']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5014211306', 'display_name': 'Fabian F. Moebius', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I190249584', 'display_name': 'Universität Innsbruck', 'ror': 'https://ror.org/054pv6659', 'country_code': 'AT', 'type': 'education', 'lineage': ['https://openalex.org/I190249584']}], 'countries': ['AT'], 'is_corresponding': False, 'raw_author_name': 'Fabian F. Moebius', 'raw_affiliation_strings': ['Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea'], 'affiliations': [{'raw_affiliation_string': 'Institut für Biochemische Pharmakologie, Universität Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria; Institut für Medizinische Biologie und Humangenetik, Schöpfstrasse 41, A-6020 Innsbruck, Austria; and Department of Biochemistry and Bioproducts Research Center Yonsei University, Seoul 120–749, Korea', 'institution_ids': ['https://openalex.org/I190249584']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 33.078, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 371, 'citation_normalized_percentile': {'value': 0.999957, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 98, 'max': 99}, 'biblio': {'volume': '95', 'issue': '14', 'first_page': '8181', 'last_page': '8186'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11618', 'display_name': 'Cholesterol and Lipid Metabolism', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/2746', 'display_name': 'Surgery'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T11618', 'display_name': 'Cholesterol and Lipid Metabolism', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/2746', 'display_name': 'Surgery'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T11072', 'display_name': 'Peroxisome Proliferator-Activated Receptors', 'score': 0.9933, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T11178', 'display_name': 'Receptor Mechanisms and Signaling', 'score': 0.9893, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/smith–lemli–opitz-syndrome', 'display_name': 'Smith–Lemli–Opitz syndrome', 'score': 0.9842974}, {'id': 'https://openalex.org/keywords/nonsense-mutation', 'display_name': 'Nonsense mutation', 'score': 0.44408843}], 'concepts': [{'id': 'https://openalex.org/C2780716534', 'wikidata': 'https://www.wikidata.org/wiki/Q998273', 'display_name': 'Smith–Lemli–Opitz syndrome', 'level': 5, 'score': 0.9842974}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.8168218}, {'id': 'https://openalex.org/C2778718757', 'wikidata': 'https://www.wikidata.org/wiki/Q143623', 'display_name': 'Sterol', 'level': 3, 'score': 0.7405498}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.7027991}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.5720559}, {'id': 'https://openalex.org/C104788683', 'wikidata': 'https://www.wikidata.org/wiki/Q259292', 'display_name': '7-Dehydrocholesterol reductase', 'level': 4, 'score': 0.5360539}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.48474094}, {'id': 'https://openalex.org/C96777560', 'wikidata': 'https://www.wikidata.org/wiki/Q518638', 'display_name': 'Nonsense mutation', 'level': 5, 'score': 0.44408843}, {'id': 'https://openalex.org/C2779646400', 'wikidata': 'https://www.wikidata.org/wiki/Q1758393', 'display_name': 'Inborn error of metabolism', 'level': 2, 'score': 0.43873188}, {'id': 'https://openalex.org/C134651460', 'wikidata': 'https://www.wikidata.org/wiki/Q3100717', 'display_name': 'Reductase', 'level': 3, 'score': 0.4371577}, {'id': 'https://openalex.org/C84597430', 'wikidata': 'https://www.wikidata.org/wiki/Q106227', 'display_name': 'Locus (genetics)', 'level': 3, 'score': 0.41242108}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.39471784}, {'id': 'https://openalex.org/C2778163477', 'wikidata': 'https://www.wikidata.org/wiki/Q43656', 'display_name': 'Cholesterol', 'level': 2, 'score': 0.261813}, {'id': 'https://openalex.org/C134018914', 'wikidata': 'https://www.wikidata.org/wiki/Q162606', 'display_name': 'Endocrinology', 'level': 1, 'score': 0.20300135}, {'id': 'https://openalex.org/C181199279', 'wikidata': 'https://www.wikidata.org/wiki/Q8047', 'display_name': 'Enzyme', 'level': 2, 'score': 0.1391299}, {'id': 'https://openalex.org/C55493867', 'wikidata': 'https://www.wikidata.org/wiki/Q7094', 'display_name': 'Biochemistry', 'level': 1, 'score': 0.13790405}], 'mesh': [{'descriptor_ui': 'D010088', 'descriptor_name': 'Oxidoreductases', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D019082', 'descriptor_name': 'Smith-Lemli-Opitz Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000595', 'descriptor_name': 'Amino Acid Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000818', 'descriptor_name': 'Animals', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002874', 'descriptor_name': 'Chromosome Mapping', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002880', 'descriptor_name': 'Chromosomes, Human, Pair 11', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003001', 'descriptor_name': 'Cloning, Molecular', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D051379', 'descriptor_name': 'Mice', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008969', 'descriptor_name': 'Molecular Sequence Data', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D044925', 'descriptor_name': 'Oxidoreductases Acting on CH-CH Group Donors', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016415', 'descriptor_name': 'Sequence Alignment', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 4, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1073/pnas.95.14.8181', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S125754415', 'display_name': 'Proceedings of the National Academy of Sciences', 'issn_l': '0027-8424', 'issn': ['0027-8424', '1091-6490'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320052', 'host_organization_name': 'National Academy of Sciences', 'host_organization_lineage': ['https://openalex.org/P4310320052'], 'host_organization_lineage_names': ['National Academy of Sciences'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc20950', 'pdf_url': 'https://europepmc.org/articles/pmc20950?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC20950', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/9653161', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc20950', 'pdf_url': 'https://europepmc.org/articles/pmc20950?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'display_name': 'Good health and well-being', 'score': 0.61, 'id': 'https://metadata.un.org/sdg/3'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 19, 'referenced_works': ['https://openalex.org/W1499672184', 'https://openalex.org/W1503184886', 'https://openalex.org/W1606017151', 'https://openalex.org/W1661742470', 'https://openalex.org/W1859885259', 'https://openalex.org/W1964390696', 'https://openalex.org/W1986359974', 'https://openalex.org/W1994224293', 'https://openalex.org/W1999827331', 'https://openalex.org/W2008267845', 'https://openalex.org/W2016115668', 'https://openalex.org/W2016387775', 'https://openalex.org/W2038186395', 'https://openalex.org/W2039999119', 'https://openalex.org/W2093108474', 'https://openalex.org/W2145484925', 'https://openalex.org/W2156679744', 'https://openalex.org/W2335117202', 'https://openalex.org/W2474757038'], 'related_works': ['https://openalex.org/W4232001453', 'https://openalex.org/W2527993022', 'https://openalex.org/W2314950709', 'https://openalex.org/W2281712398', 'https://openalex.org/W2139867307', 'https://openalex.org/W2114635068', 'https://openalex.org/W2011513402', 'https://openalex.org/W1859885259', 'https://openalex.org/W1835376330', 'https://openalex.org/W1596337127'], 'abstract_inverted_index': {'The': [0, 47, 108], 'Smith–Lemli–Opitz': [1], 'syndrome': [2], '(SLOS)': [3], 'is': [4], 'an': [5, 101], 'inborn': [6], 'disorder': [7], 'of': [8, 45, 103], 'sterol': [9], 'metabolism': [10], 'with': [11, 75], 'characteristic': [12], 'congenital': [13], 'malformations': [14], 'and': [15, 49, 54, 62, 89, 93, 115], 'dysmorphias.': [16], 'All': [17], 'patients': [18, 74], 'suffer': [19], 'from': [20], 'mental': [21], 'retardation.': [22], 'Here': [23], 'we': [24], 'identify': [25], 'the': [26, 41, 70, 76, 130, 134], 'SLOS': [27], 'gene': [28, 132], 'as': [29, 98, 100], 'a': [30], 'Δ7-sterol': [31], 'reductase': [32], '(': [33], 'DHCR7': [34, 131], ',': [35], 'EC': [36], '1.3.1.21': [37], ')': [38], 'required': [39], 'for': [40], 'de': [42], 'novo': [43], 'biosynthesis': [44], 'cholesterol.': [46], 'human': [48], 'murine': [50], 'genes': [51], 'were': [52], 'characterized': [53], 'assigned': [55], 'to': [56], 'syntenic': [57], 'regions': [58], 'on': [59], 'chromosomes': [60], '11q13': [61], '7F5': [63], 'by': [64, 121], 'fluorescense': [65], 'in': [66, 73, 129], 'situ': [67], 'hybridization.': [68], 'Among': [69], 'mutations': [71, 97, 110], 'found': [72], 'SLOS,': [77], 'are': [78], 'missense': [79, 109], '(P51S,': [80], 'T93M,': [81], 'L99P,': [82, 111], 'L157P,': [83], 'A247V,': [84], 'V326L,': [85, 112], 'R352W,': [86, 113], 'C380S,': [87], 'R404C,': [88, 114], 'G410S),': [90], 'nonsense': [91], '(W151X),': [92], 'splice': [94], 'site': [95], '(IVS8–1G>C)': [96], 'well': [99], 'out': [102], 'frame': [104], 'deletion': [105], '(720–735': [106], 'del).': [107], 'G410S': [116], 'reduced': [117], 'heterologous': [118], 'protein': [119], 'expression': [120], '>90%.': [122], 'Our': [123], 'results': [124], 'strongly': [125], 'suggest': [126], 'that': [127], 'defects': [128], 'cause': [133], 'SLOS.': [135]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2008679927', 'counts_by_year': [{'year': 2024, 'cited_by_count': 9}, {'year': 2023, 'cited_by_count': 5}, {'year': 2022, 'cited_by_count': 13}, {'year': 2021, 'cited_by_count': 11}, {'year': 2020, 'cited_by_count': 14}, {'year': 2019, 'cited_by_count': 5}, {'year': 2018, 'cited_by_count': 4}, {'year': 2017, 'cited_by_count': 5}, {'year': 2016, 'cited_by_count': 11}, {'year': 2015, 'cited_by_count': 9}, {'year': 2014, 'cited_by_count': 15}, {'year': 2013, 'cited_by_count': 10}, {'year': 2012, 'cited_by_count': 8}], 'updated_date': '2024-12-07T16:37:12.462487', 'created_date': '2016-06-24'}