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2. Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing. Savov A; Mercier B; Kalaydjieva L; Férec C Hum Mol Genet; 1994 Jan; 3(1):57-60. PubMed ID: 7512860 [TBL] [Abstract][Full Text] [Related]
3. Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Strong TV; Smit LS; Nasr S; Wood DL; Cole JL; Iannuzzi MC; Stern RC; Collins FS Hum Mutat; 1992; 1(5):380-7. PubMed ID: 1284540 [TBL] [Abstract][Full Text] [Related]
4. Alternative splicing of intron 23 of the human cystic fibrosis transmembrane conductance regulator gene resulting in a novel exon and transcript coding for a shortened intracytoplasmic C terminus. Yoshimura K; Chu CS; Crystal RG J Biol Chem; 1993 Jan; 268(1):686-90. PubMed ID: 7678008 [TBL] [Abstract][Full Text] [Related]
5. Human CFTR gene sequences in regions flanking exon 10: a simple repeat sequence polymorphism in intron 9. Xu Z; Gruenert DC Biochem Biophys Res Commun; 1996 Feb; 219(1):140-5. PubMed ID: 8619797 [TBL] [Abstract][Full Text] [Related]
6. Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Dörk T; Neumann T; Wulbrand U; Wulf B; Kälin N; Maass G; Krawczak M; Guillermit H; Ferec C; Horn G Hum Genet; 1992 Feb; 88(4):417-25. PubMed ID: 1371263 [TBL] [Abstract][Full Text] [Related]
7. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Zielenski J; Bozon D; Kerem B; Markiewicz D; Durie P; Rommens JM; Tsui LC Genomics; 1991 May; 10(1):229-35. PubMed ID: 1710599 [TBL] [Abstract][Full Text] [Related]
8. A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis. Will K; Dörk T; Stuhrmann M; Meitinger T; Bertele-Harms R; Tümmler B; Schmidtke J J Clin Invest; 1994 Apr; 93(4):1852-9. PubMed ID: 7512993 [TBL] [Abstract][Full Text] [Related]
10. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. Lee PL; Gelbart T; West C; Halloran C; Beutler E Blood Cells Mol Dis; 1998 Jun; 24(2):199-215. PubMed ID: 9642100 [TBL] [Abstract][Full Text] [Related]
11. Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene. Wang AM; Desnick RJ Genomics; 1991 May; 10(1):133-42. PubMed ID: 1646157 [TBL] [Abstract][Full Text] [Related]
12. Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France. Claustres M; Laussel M; Desgeorges M; Giansily M; Culard JF; Razakatsara G; Demaille J Hum Mol Genet; 1993 Aug; 2(8):1209-13. PubMed ID: 7691344 [TBL] [Abstract][Full Text] [Related]
13. A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Zielenski J; Markiewicz D; Rininsland F; Rommens J; Tsui LC Am J Hum Genet; 1991 Dec; 49(6):1256-62. PubMed ID: 1720926 [TBL] [Abstract][Full Text] [Related]
14. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Cutting GR; Kasch LM; Rosenstein BJ; Zielenski J; Tsui LC; Antonarakis SE; Kazazian HH Nature; 1990 Jul; 346(6282):366-9. PubMed ID: 1695717 [TBL] [Abstract][Full Text] [Related]
15. Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene. Cuppens H; Marynen P; De Boeck C; Cassiman JJ Genomics; 1993 Dec; 18(3):693-7. PubMed ID: 7508414 [TBL] [Abstract][Full Text] [Related]
16. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. Pagani F; Buratti E; Stuani C; Romano M; Zuccato E; Niksic M; Giglio L; Faraguna D; Baralle FE J Biol Chem; 2000 Jul; 275(28):21041-7. PubMed ID: 10766763 [TBL] [Abstract][Full Text] [Related]
17. Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene. Tata F; Stanier P; Wicking C; Halford S; Kruyer H; Lench NJ; Scambler PJ; Hansen C; Braman JC; Williamson R Genomics; 1991 Jun; 10(2):301-7. PubMed ID: 1712752 [TBL] [Abstract][Full Text] [Related]
18. Severe splice site mutation preceding exon 9 of the CFTR gene. Dörk T; Fislage R; Rappen U; Tümmler B Hum Mol Genet; 1993 Aug; 2(8):1313-4. PubMed ID: 7691349 [No Abstract] [Full Text] [Related]
19. 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. Fanen P; Ghanem N; Vidaud M; Besmond C; Martin J; Costes B; Plassa F; Goossens M Genomics; 1992 Jul; 13(3):770-6. PubMed ID: 1379210 [TBL] [Abstract][Full Text] [Related]
20. A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Chillón M; Palacio A; Nunes V; Estivill X Hum Genet; 1992 Dec; 90(4):474. PubMed ID: 1282900 [No Abstract] [Full Text] [Related] [Next] [New Search]