Study of 12 mutations in Turkish cystic fibrosis patients.
作者信息
Yilmaz E, Erdem H, Ozgüç M, Coşkun T, Ozçelik U, Göçmen A, Ozalp I
机构信息
Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
出版信息
Hum Hered. 1995 May-Jun;45(3):175-7. doi: 10.1159/000154281.
PMID:7542223
Abstract
67 unrelated cystic fibrosis (CF) patients were screened for some of the most common mutations of the CFTR gene. This analysis resulted in the identification of 34.6% of all CF alleles. The most common mutation is delta F508 (28.4%). Two other mutations account for a further 6.7% of the alleles (R347H: 3.0%; N1303K: 3.7%). 1677delTA, G542X, G551D, S549N/I, R553X, L558S, R334W, and R297Q were not detected.
摘要
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