Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey

Background: Cystic fibrosis (CF) is the most common worldwide, life-shortening multisystem hereditary disease, with an autosomal recessive inheritance pattern caused by mutations in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene. The national newborn screening...

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Bibliographic Details
Main Authors: Sevcan Tug Bozdogan, Cem Mujde, Ibrahim Boga, Ozge Sonmezler, Abdullah Hanta, Cagla Rencuzogullari, Dilek Ozcan, Derya Ufuk Altintas, Atil Bisgin
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Genes
Subjects:
cystic fibrosis
newborn screening
genetic testing
population genetics
Online Access:https://www.mdpi.com/2073-4425/12/2/206

Internet

https://www.mdpi.com/2073-4425/12/2/206

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