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Cystic fibrosis caused by homozygosity for the CFTR gene mutation 175insT

1995; Wiley; Volume: 84; Issue: 10 Linguagem: Inglês

10.1111/j.1651-2227.1995.tb13526.x

1651-2227

Charlotta Schaedel, M. Schwartz, R Kornfält, Lars Holmberg,

Neonatal Respiratory Health Research

Acta PaediatricaVolume 84, Issue 10 p. 1199-1200 Cystic fibrosis caused by homozygosity for the CFTR gene mutation 175insT C Schaedel, Corresponding Author C Schaedel University Hospital, Rigshospitalet, Copenhagen, DenmarkC Schaedel, Department of Paediatrics, University Hospital, S-22185 Lund, SwedenSearch for more papers by this authorM Schwartz, M Schwartz Department of Paediatrics, University Hospital, Lund, Sweden and Section of Clinical Genetics, DenmarkSearch for more papers by this authorR Kornfält, R Kornfält University Hospital, Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorL Holmberg, L Holmberg University Hospital, Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this author C Schaedel, Corresponding Author C Schaedel University Hospital, Rigshospitalet, Copenhagen, DenmarkC Schaedel, Department of Paediatrics, University Hospital, S-22185 Lund, SwedenSearch for more papers by this authorM Schwartz, M Schwartz Department of Paediatrics, University Hospital, Lund, Sweden and Section of Clinical Genetics, DenmarkSearch for more papers by this authorR Kornfält, R Kornfält University Hospital, Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorL Holmberg, L Holmberg University Hospital, Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this author First published: October 1995 https://doi.org/10.1111/j.1651-2227.1995.tb13526.xCitations: 1AboutPDF 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 onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1 Riordan J, Rommens J, Kerem B-S, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 1989; 245: 1066–72. 2 Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Gimenez J, et al. The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nature Genet 1994; 7: 169–75. 3 CF genetic analysis consortium, March 1995. 4 Schwartz et al. CF consortium, 1993. 5 Zielenski J, Rozmahel R, Bozon D, Kerem B-S, Grzelczak Z, Riordan J, et al. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991; 10: 214–28. 6 Estivill X, Scambler P, Wainwright B, Hawley K, Frederick P, Schwartz M, et al. Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics 1987; 1: 257–63. 7 Morral N, Estivill X. Multiplex PCR amplification of three micro-satellites within the CFTR gene. Genomics 1992; 13: 1362–4. 8 Gasparini P, Dognini M, Bonizzato A, Pignatti PF, Morral N, Estivill X. A tetranucleotide repeat polymorphism in the cystic fibrosis gene. Hum Genet 1991; 86: 625. 9 Shoshani T, Kerem E, Szeinberg A, Augarten A, Yahav Y, Cohen D, et al. Similar levels of mRNA from the W1282X and the AF508 cystic fibrosis alleles, in the nasal epithelial cells. J Clin Invest 1994; 93: 1502–7. Citing Literature Volume84, Issue10October 1995Pages 1199-1200 ReferencesRelatedInformation