294 related articles for article (PubMed ID: 8829644)
1. A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Wagner K; Schneditz P; Rosenkranz W
Hum Mutat; 1996; 7(2):183. PubMed ID: 8829644
[No Abstract] [Full Text] [Related]
2. A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene.
Seydewitz HH; Gonska T; Mall M; Kueh J
Hum Mutat; 2000 Sep; 16(3):277. PubMed ID: 10980550
[No Abstract] [Full Text] [Related]
3. Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.
Sangiuolo F; Lo Cicero S; Maceratesi P; Quattrucci S; Novelli G; Dallapiccola B
Hum Mutat; 1993; 2(5):422-4. PubMed ID: 7504970
[No Abstract] [Full Text] [Related]
4. Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.
Chillón M; Palacio A; Nunes V; Casals T; Giménez J; Estivill X
Hum Mutat; 1992; 1(1):75-6. PubMed ID: 1284477
[No Abstract] [Full Text] [Related]
5. Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.
Bienvenu T; Lenoir G; Fonknechten N; Desclaux-Arramond F; Kaplan JC; Beldjord C
Hum Mutat; 1994; 3(1):69-70. PubMed ID: 7509685
[No Abstract] [Full Text] [Related]
6. 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]
7. Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.
Kusic J; Radojkovic D; Cuppens H; Jaspers M; Tomic J; Savic A
Hum Mutat; 1999 Oct; 14(4):357. PubMed ID: 10502789
[No Abstract] [Full Text] [Related]
8. Identification of a CFTR frameshift mutation (1013 delAA) in trans to delta F508 in a pancreatic sufficient cystic fibrosis patient.
Nasr SZ; Strong TV; Collins FS
Hum Mol Genet; 1994 Nov; 3(11):2063-4. PubMed ID: 7533026
[No Abstract] [Full Text] [Related]
9. Two novel frameshift deletions (1924del7, 2055del9-->A) in the CFTR gene in Mexican cystic fibrosis patients.
Orozco L; Zielenski J; Markiewicz D; Villarreal T; Tsui LC; Lezana JL; del Angel RM
Hum Mutat; 1997; 10(3):239-40. PubMed ID: 9298826
[No Abstract] [Full Text] [Related]
10. Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.
Bozon D; Zielenski J; Rininsland F; Tsui LC
Hum Mutat; 1994; 3(3):330-2. PubMed ID: 7517268
[No Abstract] [Full Text] [Related]
11. Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.
Feuillet-Fieux MN; Sermet I; Edelman A; Torossi T; Ferrec M; Guillot M; Lenoir G; Bonnefont JP; Thuillier L
Hum Mutat; 2000 Jul; 16(1):95. PubMed ID: 10874326
[No Abstract] [Full Text] [Related]
12. Novel human pathological mutations. Gene symbol: CFTR. Disease: cystic fibrosis.
Farra C; Medawar R; Cabet F; Mroueh S; Souaid M; Hourani H; Mounsef C; Ashkar H; Awwad J
Hum Genet; 2007 Dec; 122(5):553. PubMed ID: 18383592
[No Abstract] [Full Text] [Related]
13. Complex mutation 4114 ATA-->TT in exon 22 of the cystic fibrosis gene CFTR.
Dörk T; Fislage R; Tümmler B
Hum Mutat; 1993; 2(6):489-91. PubMed ID: 7509237
[No Abstract] [Full Text] [Related]
14. Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients.
Alibakhshi R; Zamani M
Iran J Allergy Asthma Immunol; 2006 Mar; 5(1):3-8. PubMed ID: 17242497
[TBL] [Abstract][Full Text] [Related]
15. A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus.
Seia M; Cantù-Rajnoldi A; Ambrosioni A; Fiori S; Prandoni S; Corbetta C; Bassotti A; Moretti E; Giunta A; Padoan R
Hum Mutat; 2000 Sep; 16(3):279. PubMed ID: 10980555
[No Abstract] [Full Text] [Related]
16. The stop mutation R553X in the CFTR gene results in exon skipping.
Hull J; Shackleton S; Harris A
Genomics; 1994 Jan; 19(2):362-4. PubMed ID: 7514569
[TBL] [Abstract][Full Text] [Related]
17. Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina.
Roqué M; Godoy CP; Castellanos M; Pusiol E; Mayorga LS
Hum Mutat; 2001 Aug; 18(2):167. PubMed ID: 11462248
[TBL] [Abstract][Full Text] [Related]
18. Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.
Ko JM; Kim GH; Kim KM; Hong SJ; Yoo HW
J Korean Med Sci; 2008 Oct; 23(5):912-5. PubMed ID: 18955805
[TBL] [Abstract][Full Text] [Related]
19. A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene.
Feldmann D; Laroze F; Troadec C; Clement A; Tournier G; Couderc R
Hum Mutat; 2001 Apr; 17(4):356. PubMed ID: 11295849
[No Abstract] [Full Text] [Related]
20. A novel mutation (G1249R) in exon 20 of the CFTR gene.
Dijkstra DJ; Scheffer H; Buys CH
Hum Mutat; 1994; 4(2):161-2. PubMed ID: 7526929
[No Abstract] [Full Text] [Related]
[Next] [New Search]
