Publication Information

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'6': [119], 'The': [120, 150], 'number': [121], 'mutations': [124, 198, 209, 231], 'known': [125], 'date': [127], 'not': [129], 'far': [130], 'off': [131], '100,7-11': [132], 'taking': [133], 'account': [135], 'accumulated': [137], 'data': [138], 'from': [139, 202], 'seven': [140], 'presented': [142], 'in': [143, 161, 199, 210], 'recent': [145], 'international': [146], 'workshop': [147], '(International': [148], 'Workshop,': [149], 'Niemann-Pick': [151], 'Lesion': [153], 'Role': [156], 'Intracellular': [158], 'Lipid': [159], 'Sorting': [160], 'Human': [162], 'Disease,': [163], 'Bethesda,': [164], 'USA,': [165], 'October': [166], '1999).\n\nBecause': [167], 'genomic': [169, 185, 227], 'structure': [170], 'unknown,': [174], 'initial': [175], 'mutation': [176], 'screening': [177, 216, 225, 245], 'performed': [179], 'on': [180], 'RT-PCR': [181, 192, 218], 'products': [182, 219], 'or': [183], 'partial': [184], 'amplicons.': [186, 228], 'our': [188], 'previous': [189], 'study': [190], 'products,': [193], 'we': [194, 247], '14': [196], 'different': [197], '19': [200], 'alleles': [201], '11': [203], 'patients,': [204], 'failed': [206], 'detect': [208], 'remaining': [212], 'three': [213], 'alleles.8': [214], 'Mutation': [215], 'has': [220], 'several': [221], 'drawbacks': [222], 'compared': [223], 'with': [224], 'For': [229], 'example,': [230], 'reduce': [233], 'mRNA': [235], 'stability': [236], 'may': [237], 'escape': [238], 'screening.12': [240], '13': [241], 'To': [242], 'refine': [243], 'method,': [246], 'screened': [248], 'CITB': [250], 'human': [251], 'BAC': [252], 'library': [253], '(Research': [254], 'Genetics,': [255], 'Huntsville,': [256], 'AL)': [257], 'isolated': [259], 'clone': [261], '386K10': [262, 281], 'contained': [264], 'all': [265], '25': [267], 'exons': [268], '2': [273], 'kb': [274], 'fragment': [275], '5′UTR.': [277], 'Our': [278], 'confirmed': [282], 'exon/intron': [284], 'boundary': [285], 'sequences': [286], 'reported': [287], 'Morris': [289], 'et': [290], 'al': [291], '…': [292]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2112818676', 'counts_by_year': [{'year': 2024, 'cited_by_count': 2}, {'year': 2023, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 1}, {'year': 2020, 'cited_by_count': 4}, {'year': 2019, 'cited_by_count': 8}, {'year': 2018, 'cited_by_count': 1}, {'year': 2017, 'cited_by_count': 3}, {'year': 2016, 'cited_by_count': 5}, {'year': 2015, 'cited_by_count': 2}, {'year': 2014, 'cited_by_count': 5}, {'year': 2013, 'cited_by_count': 2}, {'year': 2012, 'cited_by_count': 2}], 'updated_date': '2024-12-12T23:05:05.659676', 'created_date': '2016-06-24'}