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• W2052186172 abstract "Human MutationVolume 11, Issue S1 p. S78-S80 Mutation in BriefFree Access Identification of three novel mutations in the CFTR gene, R117P, ΔD192, and 3121-1G→A in four French patients Dr. Delphine Feldmann, Corresponding Author Dr. Delphine Feldmann Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceLaboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorAnne Sardet, Anne Sardet Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorEmmanuel Cougoureux, Emmanuel Cougoureux Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorElisabeth Plouvier, Elisabeth Plouvier Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorJean-Loup Fontaine, Jean-Loup Fontaine Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorGuy Tournier, Guy Tournier Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorPierre Aymard, Pierre Aymard Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this author Dr. Delphine Feldmann, Corresponding Author Dr. Delphine Feldmann Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceLaboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorAnne Sardet, Anne Sardet Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorEmmanuel Cougoureux, Emmanuel Cougoureux Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorElisabeth Plouvier, Elisabeth Plouvier Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorJean-Loup Fontaine, Jean-Loup Fontaine Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorGuy Tournier, Guy Tournier Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this authorPierre Aymard, Pierre Aymard Laboratoire de Biochimie, Service de Pneumologie Pédiatrique, Service de Gastro-Entérologie Pédiatrique, Hǒpital Armand Trousseau, 75012 Paris, FranceSearch for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.1380110127Citations: 3AboutPDF 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 References Dean M, White M, Amos J, Gerrard B, Stewart C, Khaw KT, Leppert M (1990) Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 61: 863– 870. Diamond G, Scanlin T, Zasloff M, Bevins C (1991) A cross- species analysis of the cystic fibrosis transmembrane conductance regulator. J Biol Chem 266: 22761– 22769. Dörk T, Mekus F, Schmidt K, Bosshammer J, Fislage R, Heuer T, Dziadek V, Neumann T, Kalin N, Wulerand U, Tümmler B (1994) Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet 94: 533– 542. Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Gossens M (1992) Molecular characterization of cystic fibrosis. 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 13: 770– 776. Ferec C, Novelli G, Verlingue C, Quéré I, Dallapiccola B, Audrézet MP, Mercier B (1995) Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. Mol Cell Probe 9: 135– 137. Gervais R, Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M, Demaille J (1993) High frequency of the R117H CF mutation in patients with congenital absence of vas deferens. N Engl J Med 328: 447– 457. Kerem BS, Rommens J, Buchana J, Markiewicz D, Cox T, Chakravarti A, Buchwald M, Tsui LC (1989) Identification of the cystic fibrosis gene: Genetic analysis. Science 245: 1073– 1080. Kerem B, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahaf J, Kennedy D, Riordan JR, Collins FS, Rommens JR, Tsui LC (1990) Identification of mutations in regions coding corresponding to the 2 putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 87: 8447– 8451. Myers R, Maniatis T, Lerman L (1987) Detection and localization of single base changes by denaturing gradient gel electrophoresis. Method Enzymol 155: 501– 527. Riordan J, Rommens J, Kerem BS, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Plavisk Loks N, Chou J, Drum M, Iannuzzi M, Collins F, Tsui LC (1989) Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245: 1066– 1073. Rommens J, Ianuzzi M, Kerem BS, Drumm H, Melmer G, Dean M, Rozmahel R, Cole J, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan J, Tsui LC, Collins F (1989) Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 245: 1059– 1065. Sheppard D, Rich D, Ostedgard L, Gregory R, Smith A, Welsh M (1993) Mutations in CFTR associated with mild disease form CL channels with altered pore properties. Nature 362: 160– 164. Tsui LC (1992) Mutations and sequence variations detected in the cystic fibrosis conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium. Hum Mutat 1: 197– 203. Welsh MJ, Tsui LC, Boat FT, 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. Zielenski J, Bozon D, Kerem B, Markewicz D, Rommens JM, Tsui LC (1991) Identification of mutations in exon 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10: 229– 235. Citing Literature Volume11, IssueS1Supplement: Human Mutation1998Pages S78-S80 ReferencesRelatedInformation" @default.
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