Sequencing of the CFTR gene in selected Turkish patients with cystic fibrosis

Cankaya T., Arikan-Ayyildiz Z., Bora E., Uzuner N., Ulgenalp A.

MINERVA PEDIATRICA, vol.67, no.5, pp.407-411, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 67 Issue: 5
  • Publication Date: 2015
  • Journal Name: MINERVA PEDIATRICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.407-411
  • Keywords: Cystic fibrosis transmembrane conductance regulator, Mutation, Cystic fibrosis, Genetics, MUTATIONS, IDENTIFICATION, CHROMOSOMES
  • Dokuz Eylül University Affiliated: Yes

Abstract

Aim. Common mutation detection panels are usually used in clinical practice in most of the centers of our country in order to demonstrate mutations of cystic fibrosis (CF) patients. But heterogenicity of CFTR mutations in Turkey makes identification of CFTR mutations extremely difficult while using common mutation detection panels.