Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele
Open Access
- 1 January 2011
- journal article
- Published by FapUNIFESP (SciELO) in Genetics and Molecular Biology
- Vol. 34 (3), 416-420
- https://doi.org/10.1590/s1415-47572011000300008
Abstract
Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-phenotype relationship in patients bearing this complex allele was investigated. The two associated mutations were related to classical severe CF phenotypesKeywords
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