10 Mild cystic fibrosis phenotype in adult patients with novel 3272–16T>A mutation
نویسندگان
چکیده
منابع مشابه
Clinical phenotype of cystic fibrosis patients with the G551D mutation.
BACKGROUND Data on whether the phenotype of cystic fibrosis (CF) patients with compound heterozygocity for G551D (Gly551Asp) differs from patients with F508del (Phe508del) homozygous mutations is divergent. AIM We hypothesized that CF patients with the G551D mutation would have less severe disease than F508del homozygotes. DESIGN We compared the clinical phenotype of adult patients with a G...
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Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...
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Introduction: Bronchiectasis is a common problem in children especially under 5 years. Early diagnosis of disease and its causes could be useful in early treatment and preventing probable complications. This study aimed at evaluating the cystic fibrosis (CF) in patients with bronchiectasis. Methods: In a cross-sectional study, 374 children with bronchiectasis were studied. The diagnosis was ma...
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Cystic fibrosis (CF) is the most common autosomal recessive genetic disease, which is caused by defection in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR gene codes chloride channels to modulate the homeostasis of epithelial environments. Defective CFTR affects various organs such as the lungs, pancreas, intestine, liver and skin; however, lung impairment is the mai...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2015
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(15)30187-9