A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report

• Main Authors: Peiwen Xu (Author), Sexing Huang (Author), Jie Li (Author), Yang Zou (Author), Ming Gao (Author), Ranran Kang (Author), Junhao Yan (Author), Xuan Gao (Author), Yuan Gao (Author)
• Format: Book
• Published: BMC, 2018-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 polycystin-1) and PKD2 (produces polycystin-2) are responsible for this...