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Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients

1992; Wiley; Volume: 1; Issue: 1 Linguagem: Inglês

10.1002/humu.1380010113

1098-1004

Miguel Chillón, Ana Palacio, Virginia Nunes, Teresa Casals, Javier Giménez, Xavier Estivill,

Tracheal and airway disorders

Human MutationVolume 1, Issue 1 p. 75-76 Mutation In Brief Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients Miguel Chillón, Miguel Chillón Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this authorAna Palacio, Ana Palacio Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this authorVirginia Nunes, Virginia Nunes Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this authorTeresa Casals, Teresa Casals Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this authorJavier Giménez, Javier Giménez Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this authorXavier Estivill, Corresponding Author Xavier Estivill Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainMolecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this author Miguel Chillón, Miguel Chillón Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this authorAna Palacio, Ana Palacio Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this authorVirginia Nunes, Virginia Nunes Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this authorTeresa Casals, Teresa Casals Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this authorJavier Giménez, Javier Giménez Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this authorXavier Estivill, Corresponding Author Xavier Estivill Molecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainMolecular Genetics Department, Cancer Research Institute, Duran i Reynals Hospital, Campus Bellvitge, L'Hospitalet de Llobregat, Barcelona 08907, SpainSearch for more papers by this author First published: 1992 https://doi.org/10.1002/humu.1380010113Citations: 12AboutPDF 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 No abstract is available for this article. References Casals T, Nunes V, Palacio A, Gimenez J, Gaona A, Ibanez N, Morral N, Estivill X (1992) Geographical distribution of cystic fibrosis mutations ΔF508 and G542X: High frequency of G542X in the South-East of Spain. Submitted. Ivaschenko E, White M, Dean M, Baranov V (1991) A deletion of two nucleotides in exon 10 of the CFTR gene in a soviet family with cystic fibrosis causing early infant death. Genomics 10: 298– 299. Kerem B, Rommens J, Buchanan J, Markiewicz D, Cox T, Chakravarti A, Buchwald M, Tsui L-C (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073– 1080. Kerem B, Zielensky J, Markiewicz D, Bozon D, Gazit E, Yahaf J, Kennedy D, Riordan JR, Collins FS, Rommens J, Tsui L-C (1990) Identification of mutations in regions corresponding to the 2 putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 87: 8447– 8451. Kobayashi K, Knowles M, O'Brien W, Beaudet A (1990) Benign missense variations in the cystic fibrosis gene. Am J Hum Genet 47: 611– 615. Morral N, Nunes V, Casals T, Estivill X (1991) CA/GT Microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. Genomics 10: 692– 698. Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sanguiolo F, Balassopoulou A, Gimenez J, Dognini M, Ravnik-Glavac M, Cikuli M, Mokini V, Komel R, Dallapiccola B, Pignatti P, Loukopoulos D, Casals T, Estivill X (1991) Analysis of 14 cystic fibrosis mutations in five South European populations. Hum Genet 87: 737– 738. Zielensky J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan J, Rommens J, Tsui L-C (1991) Genomic DNA sequence of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Genomics 10: 214– 228. Citing Literature Volume1, Issue11992Pages 75-76 ReferencesRelatedInformation