Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8
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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This study was conducted to examine a patient's age and condition at the time of diagnosis as one potential factor contributing to the "gender gap" in cystic fibrosis. The study population consisted of 11,275 US patients diagnosed during 1986-1998 and reported to the Cystic Fibrosis Foundation Registry in the same or the following calendar year. Parallel analyses were performed for Wisconsin pa...
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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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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2006
ISSN: 1569-1993
DOI: 10.1016/j.jcf.2005.09.009