Article
CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family.
Asian journal of andrology - 1 Jan 2000
Ghouchanatigh Mahdieh Daliri, Khan Ranjha, Mojarrad Majid, Hameed Uzma, Zubair Muhammad, Waqas Ahmed, Jalali Mohsen, Kalantari Mahmoudreza, Shamsa Ali, Zhang Huan, Shi Qing-Hua
Abstract excerpt
Cystic fibrosis (CF) is one of the most common recessive genetic diseases, with a wide spectrum of phenotypes, ranging from infertility to severe pulmonary disease. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are considered the main genetic cause for CF. In this study, we recruited a consanguineous Iranian pedigree with four male patients diagnosed with congenital unilateral...
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