Article
Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.
BMC medical genetics - 10 Dec 2014
Choi Rihwa, Park Hayne Cho, Lee Kyunghoon, Lee Myoung-Gun, Kim Jong-Won, Ki Chang-Seok, Hwang Young-Hwan, Ahn Curie
Abstract excerpt
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder. It is caused by mutations in the PKD1 and PKD2 genes, and manifests as progressive cyst growth and renal enlargement, resulting in renal failure. Although there have been a few studies on the frequency and spectrum of mutations in PKD1 and PKD2 in Korean patients with ADPKD, only exons 36-46, excluding...
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