211 related articles for article (PubMed ID: 7535746)
21. Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.
Shackleton S; Hull J; Dear S; Seller A; Thomson A; Harris A
Hum Mutat; 1994; 3(2):141-51. PubMed ID: 7515303
[TBL] [Abstract][Full Text] [Related]
22. The 3120 +1G-->A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients.
Cabello GM; Cabello EH JL; Fernande O; Harris A
Hum Biol; 2001 Jun; 73(3):403-9. PubMed ID: 11459421
[TBL] [Abstract][Full Text] [Related]
23. A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
Shackleton S; Harris A
Hum Mutat; 1998; Suppl 1():S156-7. PubMed ID: 9452073
[No Abstract] [Full Text] [Related]
24. Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).
Chillón M; Casals T; Giménez J; Nunes V; Estivill X
Hum Mutat; 1994; 3(3):223-30. PubMed ID: 7517264
[TBL] [Abstract][Full Text] [Related]
25. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
Chu CS; Trapnell BC; Curristin S; Cutting GR; Crystal RG
Nat Genet; 1993 Feb; 3(2):151-6. PubMed ID: 7684646
[TBL] [Abstract][Full Text] [Related]
26. 394delTT: a Nordic cystic fibrosis mutation.
Schwartz M; Anvret M; Claustres M; Eiken HG; Eiklid K; Schaedel C; Stolpe L; Tranebjaerg L
Hum Genet; 1994 Feb; 93(2):157-61. PubMed ID: 7509310
[TBL] [Abstract][Full Text] [Related]
27. Nonisotopic detection of mutations using a modified single-strand conformation polymorphism analysis.
Weidner J; Eigel A; Horst J; Köhnlein W
Hum Mutat; 1994; 4(1):55-6. PubMed ID: 7524914
[TBL] [Abstract][Full Text] [Related]
28. Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Cheadle JP; al-Jader LN; Meredith AL
Hum Mol Genet; 1993 Mar; 2(3):317-9. PubMed ID: 7684644
[No Abstract] [Full Text] [Related]
29. Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent.
Marigo C; Bombieri C; Bisceglia L; Zelante L; Gasparini P; Pignatti PF
Mol Cell Probes; 1995 Apr; 9(2):139-41. PubMed ID: 7541511
[TBL] [Abstract][Full Text] [Related]
30. Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.
Claustres M; Gerrard B; Kjellberg P; Desgeorges M; Demaille J; Dean M
Hum Mutat; 1992; 1(4):310-3. PubMed ID: 1284537
[TBL] [Abstract][Full Text] [Related]
31. SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII.
Chillón M; Nunes V; Estivill X
Nucleic Acids Res; 1991 Nov; 19(22):6343. PubMed ID: 1720243
[No Abstract] [Full Text] [Related]
32. Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.
Dörk T; Fislage R; Neumann T; Wulf B; Tümmler B
Hum Genet; 1994 Jan; 93(1):67-73. PubMed ID: 7505767
[TBL] [Abstract][Full Text] [Related]
33. Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
Chu CS; Trapnell BC; Curristin SM; Cutting GR; Crystal RG
J Clin Invest; 1992 Sep; 90(3):785-90. PubMed ID: 1381723
[TBL] [Abstract][Full Text] [Related]
34. Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Zielenski J; Markiewicz D; Chen HS; Schappert K; Seller A; Durie P; Corey M; Tsui LC
Hum Mutat; 1995; 5(1):43-7. PubMed ID: 7537150
[TBL] [Abstract][Full Text] [Related]
35. Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia.
Bremer S; Hoof T; Wilke M; Busche R; Scholte B; Riordan JR; Maass G; Tümmler B
Eur J Biochem; 1992 May; 206(1):137-49. PubMed ID: 1375156
[TBL] [Abstract][Full Text] [Related]
36. Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients.
Eiklid K; Tranebjaerg L; Eiken HG; Pedersen JC; Michalsen H; Fluge G; Schwartz M; Nilsen BR; Bolle R; Skyberg D
Clin Genet; 1993 Jul; 44(1):12-4. PubMed ID: 7691448
[TBL] [Abstract][Full Text] [Related]
37. A donor splice mutation (405 + 1 G-->A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA.
Dörk T; Will K; Demmer A; Tümmler B
Hum Mol Genet; 1993 Nov; 2(11):1965-6. PubMed ID: 7506605
[No Abstract] [Full Text] [Related]
38. 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]
39. CF2603/4delT, a new frameshift mutation in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Ezquieta B; Molano J
Hum Genet; 1993 Jul; 91(6):614-5. PubMed ID: 7687986
[TBL] [Abstract][Full Text] [Related]
40. Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion.
Morral N; Nunes V; Casals T; Cobos N; Asensio O; Dapena J; Estivill X
Hum Mol Genet; 1993 Jun; 2(6):677-81. PubMed ID: 7689007
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
