Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis

Volume: 62, Issue: 8, Pages: 103681 - 103681
Published: Aug 1, 2019
Abstract
Cystic fibrosis (MIM #219700) is one of the most common autosomal recessively inherited diseases in Caucasians and is caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. However, this disease is much less frequent in Asian populations. Here, we performed a clinical characterization of, and genetic analysis of CFTR in, Korean patients with cystic fibrosis. Six Korean patients from five families...
Paper Details
Title
Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis
Published Date
Aug 1, 2019
Volume
62
Issue
8
Pages
103681 - 103681
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