Lung function decline is delayed but not decreased in patients with cystic fibrosis and the R117H gene mutation
نویسندگان
چکیده
منابع مشابه
Molecular screening of R117H mutation in non caucasian cystic fibrosis patients in the north of Iran
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...
متن کاملmolecular screening of r117h mutation in non caucasian cystic fibrosis patients in the north of iran
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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OBJECTIVE Survival analysis was performed on a prospectively followed cohort of patients with cystic fibrosis (CF) to determine the impact of the development of diabetes on survival. RESEARCH DESIGN AND METHODS Clinical data were retrieved for patients diagnosed with CF-related diabetes (CFRD) at the Minnesota CF Center in 1987-2002. Kaplan-Meier survival analysis was performed to estimate me...
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Cystic fibrosis (CF) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. The aim of this study was to perform a comprehensive analysis of the C...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2018
ISSN: 1569-1993
DOI: 10.1016/j.jcf.2017.10.003