Article
Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
Mutation research - 1 Feb 2000
Kim U K, Jin D K, Ahn C, Shin J H, Lee K B, Kim S H, Chae J J, Hwang D Y, Lee J G, Namkoong Y, Lee C C
Abstract excerpt
The gene for the most common form of autosomal dominant polycystic kidney disease (ADPKD), PKD1, has recently been characterized and shown to encode an integral membrane protein, polycystin-1, which is involved in cell-cell and cell-matrix interactions. Until now, approximately 30 mutations of the 3' single copy region of the PKD1 gene have been reported in European and American populations. However, there is no...
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