메뉴 건너뛰기




Volumn 47, Issue 2, 2001, Pages 110-112

Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0035038773     PISSN: 01426338     EISSN: None     Source Type: Journal    
DOI: 10.1093/tropej/47.2.110a     Document Type: Article
Times cited : (43)

References (16)
  • 2
    • 0026523829 scopus 로고
    • Cystic fibrosis: Molecular biology and therapeutic implications
    • (1992) Science , vol.256 , pp. 774-779
    • Collins, F.S.1
  • 6
  • 12
    • 0001702510 scopus 로고    scopus 로고
    • Resolution of homozygous sequence alteration in the CFTR gene by mutation detection enhancement (MDE). Analysis independent of heteroduplex formation reveals a novel mutation (548A→T) that carries cystic fibrosis patients
    • (1996) Am J Hum Genet , vol.59 , pp. S-2330
    • Meyer, B.F.1    Kambouris, M.2
  • 14
    • 0026503640 scopus 로고
    • Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis in Israel, with presentation of severe disease
    • (1992) Am J Hum Genet , vol.50 , pp. 222-228
    • Shoshani, T.1    Augarten, A.2    Gazit, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.