Article
Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.
Human genetics - 1 Dec 1997
Viribay M, Hayashi T, Tellería D, Mochizuki T, Reynolds D M, Alonso R, Lens X M, Moreno F, Harris P C, Somlo S, San Millán J L
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequent inherited disorders. The majority of cases are due to mutation of the PKD1 gene, on 16p13.3, while in most of the remainder the disease maps to the PKD2 locus, at chromosome 4q21-q23. Recently, the PKD2 gene has been positionally cloned and three nonsense mutations within the coding sequence of the gene identified. Here we report a...
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