Article
Polymorphisms in the human autosomal dominant polycystic kidney disease 2 (PKD2) gene.
Molecular and cellular probes - 1 Jun 1999
Kim U K, Shin J H, Lee K B, Kim S H, Chae J J, Hong S S, Jin D K, Namkoong Y, Lee C C
Abstract excerpt
Three polymorphisms of the PKD2 (MIM 173910) gene in patients with autosomal dominant polycystic kidney disease are reported: (1) a substitution from ATT (isoleucine) to GTT (valine) at codon 452; (2) a substitution from CGG (arginine) to CAG (glutamine) at codon 848; and (3) a substitution from G to A in intron 4 of the gene. The minor allelic frequencies of codon 452 and intron 4 in the Korean population were...
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