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Human Mutation
Volumn 8, Issue 3, 1996, Pages 229-235
Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes
Author keywords

Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator gene; Haplotype association; Microsatellite haplotype; Mutation; United Kingdom (UK)
Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;
EID: 0029797636     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:3<229::AID-HUMU6>3.0.CO;2-4     Document Type: Article
Times cited : (11)
References (7)
  • 2
    • 0028323310 scopus 로고
    • 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 (1994) Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-G. Hum Mutat 3:330-332.
    • (1994) Hum Mutat , vol.3 , pp. 330-332
    • Bozon, D.1    Zielenski, J.2    Rininsland, F.3    Tsui, L.C.4
  • 3
    • 0026865176 scopus 로고
    • A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene
    • Cheadle JP, Meredith AL, Al-Jader LN (1992) A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet 1:123-125.
    • (1992) Hum Mol Genet , vol.1 , pp. 123-125
    • Cheadle, J.P.1    Meredith, A.L.2    Al-Jader, L.N.3
  • 4
    • 0027279895 scopus 로고
    • A novel missense mutation, W846X1 (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Cheadle JP, Al-Jader LN, Meredith AL (1993) A novel missense mutation, W846X1 (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Mol Genet 2:1067-1068.
    • (1993) Hum Mol Genet , vol.2 , pp. 1067-1068
    • Cheadle, J.P.1    Al-Jader, L.N.2    Meredith, A.L.3
  • 5
    • 0027379755 scopus 로고
    • Direct sequencing of the complete CFTR gene: The molecular characterisation of 99.5% of CF chromosomes in Wales
    • Cheadle J, Goodchild MC, Meredith AL (1993) Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales. Hum Mol Genet 2:1551-1556.
    • (1993) Hum Mol Genet , vol.2 , pp. 1551-1556
    • Cheadle, J.1    Goodchild, M.C.2    Meredith, A.L.3
  • 6
    • 0027171321 scopus 로고
    • Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4
    • Chevalier-Porst F, Mathieu M, Bozon D (1993) Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4. Hum Mol Genet 2:1071-1072.
    • (1993) Hum Mol Genet , vol.2 , pp. 1071-1072
    • Chevalier-Porst, F.1    Mathieu, M.2    Bozon, D.3
  • 7
    • 0026773625 scopus 로고
    • A rare mutation (1078delT) in exon 7 of the CFTR gene in a Southern French adult with cystic fibrosis
    • Claustres M, Gerrard B, White MB, Desgeorges M, Kjellberg P, Rollin B, Dean M (1992) A rare mutation (1078delT) in exon 7 of the CFTR gene in a Southern French adult with cystic fibrosis. Genomics 13:07-908.
    • (1992) Genomics , vol.13 , pp. 07-908
    • Claustres, M.1    Gerrard, B.2    White, M.B.3    Desgeorges, M.4    Kjellberg, P.5    Rollin, B.6    Dean, M.7

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.