Article
Implication of the cystic fibrosis transmembrane conductance regulator gene in infertile family members of Indian CF patients.
Biochemical genetics - 1 Dec 2008
Sharma Neeraj, Singh Meenu, Acharya Naveen, Singh Shrawan K, Thapa Babu R, Kaur Gurjeet, Prasad Rajendra
Abstract excerpt
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene. Among males with CF, 95% are infertile due to congenital absence of the vas deferens. We investigated the role of family history of infertility among CF subjects and characterized mutations in them. Among 50 CF subjects, four had a family history of infertility. A homozygous c.1521_1523delCTT mutation was detected in one,...
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