Article
A novel TRPC6 mutation that causes childhood FSGS.
PloS one - 10 Nov 2009
Heeringa Saskia F, Möller Clemens C, Du Jianyang, Yue Lixia, Hinkes Bernward, Chernin Gil, Vlangos Christopher N, Hoyer Peter F, Reiser Jochen, Hildebrandt Friedhelm
Abstract excerpt
BACKGROUND: TRPC6, encoding a member of the transient receptor potential (TRP) superfamily of ion channels, is a calcium-permeable cation channel, which mediates capacitive calcium entry into the cell. Until today, seven different mutations in TRPC6 have been identified as a cause of autosomal-dominant focal segmental glomerulosclerosis (FSGS) in adults. METHODOLOGY/PRINCIPAL FINDINGS: Here we report a novel...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.