Title: Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis
Abstract: Human MutationVolume 11, Issue S1 p. S99-S102 Mutation in BriefFree Access Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis Teresa Casals, Teresa Casals Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainSearch for more papers by this authorMaria D. Ramos, Maria D. Ramos Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainSearch for more papers by this authorJavier Giménez, Javier Giménez Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainSearch for more papers by this authorMarga Nadal, Marga Nadal Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainSearch for more papers by this authorVirginia Nunes, Virginia Nunes Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainSearch for more papers by this authorXavier Estivill, Corresponding Author Xavier Estivill Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainMolecular Genetics Dept., Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels, Km 2,7, 08907 Barcelona, Spain. Fax: 343-263-22-51Search for more papers by this author Teresa Casals, Teresa Casals Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainSearch for more papers by this authorMaria D. Ramos, Maria D. Ramos Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainSearch for more papers by this authorJavier Giménez, Javier Giménez Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainSearch for more papers by this authorMarga Nadal, Marga Nadal Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainSearch for more papers by this authorVirginia Nunes, Virginia Nunes Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainSearch for more papers by this authorXavier Estivill, Corresponding Author Xavier Estivill Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, 08907 Barcelona, SpainMolecular Genetics Dept., Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels, Km 2,7, 08907 Barcelona, Spain. Fax: 343-263-22-51Search for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.1380110133Citations: 5AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat References Calonge MJ, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A, Estivill X, Gasparini P, Palacín M, Nunes V (1995) Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S117 to 2p16 by fluoresence in situ hybridization. Hum Genet 95: 633– 636. 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Nucleic Acids Res 15: 3639– 3651. Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, Welsh MJ (1993) Mutations in CFTR associated with mild-disease form Cl− channels with altered pore properties. Nature 362: 160– 164. Welsh MJ, Tsui L-C, Boat TF, Beaudet AL (1995) Cystic Fibrosis. In CR Scriver, AL Beaudet, WS Sly, D Valle (eds): The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. New York: McGraw-Hill, pp 3799– 3876. White MB, Leppert M, Nielsen D, Zielenski J, Gerrard B, Stewart C, Dean M (1991) A de novo cystic fibrosis mutation: CGA (Arg) to TGA (Stop) at codon 851 of the CFTR gene. Genomics 11: 778– 779. Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan J, Rommens JM, Tsui L-C (1991) Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10: 214– 228. Citing Literature Volume11, IssueS1Supplement: Human Mutation1998Pages S99-S102 ReferencesRelatedInformation
Publication Year: 1998
Publication Date: 1998-01-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 10
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