A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. Mutations PKD1 (which accounts for 85% of ADPKD and produces pol...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao and Yuan Gao Tags: Case report Source Type: research