Identification of 99% of CFTR gene mutations in Bulgarian‐, Bulgarian Turk‐, and Roma cystic fibrosis patients

Abstract Background The spectrum and frequencies of CFTR mutations causing Cystic fibrosis (CF) varies among different populations in Europe, and beyond. Methods We identified 98.9% of all CFTR mutations in a representative cohort of 140 CF patients comprising 107 Bulgarian‐ (BG), 17 BG Turk‐, and 1...

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Bibliographic Details
Main Authors: Guergana Petrova, Nadezhda Yaneva, Jana Hrbková, Malgorzata Libik, Alexey Savov, Milan Macek Jr.
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.696