These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 7683954)

  • 1. A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
    Nunes V; Chillón M; Dörk T; Tümmler B; Casals T; Estivill X
    Hum Mol Genet; 1993 Jan; 2(1):79-80. PubMed ID: 7683954
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.
    Bienvenu T; Cazeneuve C; Beldjord C; Dusser D; Kaplan JC; Hubert D
    Hum Mol Genet; 1994 Feb; 3(2):365-6. PubMed ID: 7516232
    [No Abstract]   [Full Text] [Related]  

  • 4. A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Greil I; Wagner K; Rosenkranz W
    Hum Hered; 1994; 44(4):238-40. PubMed ID: 7520022
    [No Abstract]   [Full Text] [Related]  

  • 5. Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.
    Chillón M; Casals T; Nunes V; Giménez J; Pérez Ruiz E; Estivill X
    Hum Mol Genet; 1993 Oct; 2(10):1741-2. PubMed ID: 7505694
    [No Abstract]   [Full Text] [Related]  

  • 6. Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency.
    Golla A; Deufel A; Aulehla-Scholz C; Böhm I; Hilz B; Meitinger T; Deufel T
    Hum Mutat; 1994; 3(1):67-8. PubMed ID: 7509684
    [No Abstract]   [Full Text] [Related]  

  • 7. Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.
    Romey MC; Desgeorges M; Malzac P; Sarles J; Demaille J; Claustres M
    Hum Mol Genet; 1994 Apr; 3(4):661-2. PubMed ID: 7520799
    [No Abstract]   [Full Text] [Related]  

  • 8. G27X: a novel mutation in exon 2 of the CF gene.
    Shackleton S; Harris A
    Hum Mol Genet; 1992 Sep; 1(6):445. PubMed ID: 1284531
    [No Abstract]   [Full Text] [Related]  

  • 9. Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.
    Chillón M; Casals T; Nunes V; Giménez J; Estivill X
    Hum Mol Genet; 1993 Aug; 2(8):1317-8. PubMed ID: 7691350
    [No Abstract]   [Full Text] [Related]  

  • 10. Identification of 12 novel mutations in the CFTR gene.
    Audrézet MP; Mercier B; Guillermit H; Quéré I; Verlingue C; Rault G; Férec C
    Hum Mol Genet; 1993 Jan; 2(1):51-4. PubMed ID: 7683952
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Identification of a new splice site mutation (3849 + 1G-->A) in the intron 19 of the CFTR gene.
    Greil I; Wagner K; Rosenkranz W
    Hum Mol Genet; 1993 Dec; 2(12):2171-2. PubMed ID: 7509231
    [No Abstract]   [Full Text] [Related]  

  • 13. A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene.
    White MB; Leppert M; Nielsen D; Zielenski J; Gerrard B; Stewart C; Dean M
    Genomics; 1991 Nov; 11(3):778-9. PubMed ID: 1723056
    [No Abstract]   [Full Text] [Related]  

  • 14. Mild course of cystic fibrosis associated with heterozygosity for infrequent mutations in the first nucleotide-binding fold of CFTR.
    Dörk T; Wulbrand U; Steinkamp G; Tümmler B
    Acta Paediatr; 1992 Jan; 81(1):82-3. PubMed ID: 1376182
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a novel missense mutation G239R in exon 6a of the CFTR gene.
    Bienvenu T; Cazeneuve C; Fajac I; Dusser D; Hubert D; Kaplan JC; Beldjord C
    Hum Hered; 1995; 45(1):53-4. PubMed ID: 7534748
    [No Abstract]   [Full Text] [Related]  

  • 16. Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
    Shackleton S; Beards F; Harris A
    Hum Mol Genet; 1992 Sep; 1(6):439-40. PubMed ID: 1284529
    [No Abstract]   [Full Text] [Related]  

  • 17. 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]  

  • 18. A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
    Schaedel C; Kristoffersson AC; Kornfält R; Holmberg L
    Hum Mol Genet; 1994 Jun; 3(6):1001-2. PubMed ID: 7524909
    [No Abstract]   [Full Text] [Related]  

  • 19. Toward an animal model of cystic fibrosis: targeted interruption of exon 10 of the cystic fibrosis transmembrane regulator gene in embryonic stem cells.
    Koller BH; Kim HS; Latour AM; Brigman K; Boucher RC; Scambler P; Wainwright B; Smithies O
    Proc Natl Acad Sci U S A; 1991 Dec; 88(23):10730-4. PubMed ID: 1720548
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.
    Cheadle JP; Meredith AL; al-Jader LN
    Hum Mol Genet; 1992 May; 1(2):123-5. PubMed ID: 1284468
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.