Cystic fibrosis transmembrane regulator mutations in Turkish patients with cystic fibrosis

Bingöl, AYŞEN; Ertosun, MUSTAFA; Artan, REHA; Yılmaz, A; Mıhçı, ERCAN; Nur, BANU; Erman Akar, Münire; Mendilcioğlu, İnanç; Şimşek, MEHMET; Demir Ekşi, Durkadın; Pehlivanoğlu, SURAY; YILMAZ, ELANUR; Alper, ÖZGÜL

Cystic fibrosis transmembrane regulator mutations in Turkish patients with cystic fibrosis

Bingöl A., Ertosun M. G., Artan R., Yılmaz A., Mıhçı E., Nur B., ...Daha Fazla

Sunum, 2014

Yayın Türü: Diğer Yayınlar / Sunum
Basım Tarihi: 2014
Akdeniz Üniversitesi Adresli: Evet

Özet

Genetic information is currently lacking to build solid population?based cystic fibrosis (CF) screening programs. A large proportion of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR; MIM #602421) gene are still unknown, especially in Turkish population. The purpose of this study is to describe the distribution of CFTR mutations found in Turkish CF population using multiple mutation sources and stepped mutation analysis.