WS17.5 Patients with cystic fibrosis and the R117H mutation: The European experience
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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چکیده ندارد.
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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BACKGROUND Lung transplantation is a well-established therapeutic option for end-stage lung disease in cystic fibrosis. Although it confers a clear survival advantage, outcome differs among centers according to local experience, patient selection, transplantation procedure, and postoperative care. OBJECTIVES To evaluate the national Israeli experience with lung transplantation in patients wit...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2015
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(15)30101-6