Article
A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene.
Kidney international - 1 May 1998
Pei Y, Wang K, Kasenda M, Paterson A D, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St George-Hyslop P
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common Mendelian disorders and is genetically heterogeneous. Linkage studies have shown that the majority (approximately 85%) of ADPKD cases are due to mutations in PKD1 on chromosome 16p13.3, while mutations in PKD2 on chromosome 4q21-q23 are thought to account for most of the remaining cases. In this report, we describe the mutation in a...
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