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Article

A Mutation in the <i>TRPC6</i> Cation Channel Causes Familial Focal Segmental Glomerulosclerosis

6 May 2005

Abstract excerpt

Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology, and up to 20% of patients on dialysis have been diagnosed with it. Here we show that a large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion-channel protein transient receptor potential cation channel 6 (TRPC6). The proline-to-glutamine substitution at position 112,...

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Share to Coagulation, Bradykinin, Polyphosphates, and Angioedema
Share to Ion Transport and Channel Regulation
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Identifiers

PMID: 15879175
DOI: 10.1126/science.1106215

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A Mutation in the <i>TRPC6</i> Cation Channel Causes Familial Focal Segmental GlomerulosclerosisPMID 15879175Read ↗

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