STUDY OF 12 MUTATIONS IN TURKISH CYSTIC-FIBROSIS PATIENTS

Authors
YILMAZ E ERDEM H OZGUC M COSKUN T OZCELIK U GOCMEN A OZALP I
Citation
E. Yilmaz et al., STUDY OF 12 MUTATIONS IN TURKISH CYSTIC-FIBROSIS PATIENTS, Human heredity, 45(3), 1995, pp. 175-177
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
Human heredity → ACNP
ISSN journal
00015652
Volume
45
Issue
3
Year of publication
1995
Pages
175 - 177
Database
ISI
SICI code
0001-5652(1995)45:3<175:SO1MIT>2.0.ZU;2-N
Abstract
67 unrelated cystic fibrosis (CF) patients were screened for some of t he most common mutations of the CFTR gene. This analysis resulted in t he 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.