Study of 12 mutations in turkish cystic fibrosis patients

E. Yilmaz; H. Erdem; Meral Özgüç; T. Coşkuń; U. Özçelik; A. Göςmen; Özalp

doi:10.1159/000154281

Study of 12 mutations in turkish cystic fibrosis patients

E. Yilmaz
, H. Erdem
, Meral Özgüç
, T. Coşkuń
, U. Özçelik
, A. Göςmen
, Özalp

Research output: Contribution to journal › Article › peer-review

23 Citations (Scopus)

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 ∆F508 (28.4%). Two other mutations account for a further 6.7% of the alleles (R347H: 3.0%; N1303K: 3.7%). 1677dclTA, G542X, G55 ID, S549N/I, R553X, L558S, R334W, and R297Q were not detected.

Original language	English
Pages (from-to)	175-177
Number of pages	3
Journal	Human Heredity
Volume	45
Issue number	3
DOIs	https://doi.org/10.1159/000154281
Publication status	Published - 1995
Externally published	Yes

Keywords

Mutation frequency
Turkish cystic fibrosis

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10.1159/000154281

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@article{2aa7b4d604f54cff8307c893e14a7445,

title = "Study of 12 mutations in turkish cystic fibrosis patients",

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 ∆F508 (28.4\%). Two other mutations account for a further 6.7\% of the alleles (R347H: 3.0\%; N1303K: 3.7\%). 1677dclTA, G542X, G55 ID, S549N/I, R553X, L558S, R334W, and R297Q were not detected.",

keywords = "Mutation frequency, Turkish cystic fibrosis",

author = "E. Yilmaz and H. Erdem and Meral {\"O}zg{\"u}{\c c} and T. Co{\c s}ku{\'n} and U. {\"O}z{\c c}elik and A. G{\"o}ςmen and {\"O}zalp",

year = "1995",

doi = "10.1159/000154281",

language = "English",

volume = "45",

pages = "175--177",

journal = "Human Heredity",

issn = "0001-5652",

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TY - JOUR

T1 - Study of 12 mutations in turkish cystic fibrosis patients

AU - Yilmaz, E.

AU - Erdem, H.

AU - Özgüç, Meral

AU - Coşkuń, T.

AU - Özçelik, U.

AU - Göςmen, A.

AU - Özalp,

PY - 1995

Y1 - 1995

N2 - 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 ∆F508 (28.4%). Two other mutations account for a further 6.7% of the alleles (R347H: 3.0%; N1303K: 3.7%). 1677dclTA, G542X, G55 ID, S549N/I, R553X, L558S, R334W, and R297Q were not detected.

AB - 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 ∆F508 (28.4%). Two other mutations account for a further 6.7% of the alleles (R347H: 3.0%; N1303K: 3.7%). 1677dclTA, G542X, G55 ID, S549N/I, R553X, L558S, R334W, and R297Q were not detected.

KW - Mutation frequency

KW - Turkish cystic fibrosis

UR - https://www.scopus.com/pages/publications/0029025722

U2 - 10.1159/000154281

DO - 10.1159/000154281

M3 - Article

C2 - 7542223

AN - SCOPUS:0029025722

SN - 0001-5652

VL - 45

SP - 175

EP - 177

JO - Human Heredity

JF - Human Heredity

IS - 3

ER -

Study of 12 mutations in turkish cystic fibrosis patients

Abstract

Keywords

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