315 Late diagnosis of CF in a family with R117H
نویسندگان
چکیده
منابع مشابه
Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.
Compound heterozygotes for a severe cystic fibrosis transmembrane conductance regulator (CFTR) mutation and the R117H or R117C mutation (R117H/C) have clinical presentations that vary from classic cystic fibrosis (CF) to an incidental genetic finding. The aim of this study was to assess the influence of the intron-8 polythvmidine sequence (IVS8) on the relationship between genotype and phenotyp...
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15 صفحه اولEffect of genistein on basal jejunal chloride secretion in R117H CF mice is sex and route specific
Cystic fibrosis (CF) results from the loss or reduction in function of the CFTR (cystic fibrosis transmembrane conductance regulatory protein) chloride channel. The third most common CFTR mutation seen clinically is R117H. Genistein, a naturally occurring phytoestrogen, is known to stimulate CFTR function in vitro. We aimed to determine whether route of administration of genistein could mediate...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2015
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(15)30489-6