Article
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
The New England journal of medicine - 27 Dec 2007
Plaisier Emmanuelle, Gribouval Olivier, Alamowitch Sonia, Mougenot Béatrice, Prost Catherine, Verpont Marie Christine, Marro Béatrice, Desmettre Thomas, Cohen Salomon Yves, Roullet Etienne, Dracon Michel, Fardeau Michel, Van Agtmael Tom, Kerjaschki Dontscho, Antignac Corinne, Ronco Pierre
Abstract excerpt
BACKGROUND: COL4A3, COL4A4, and COL4A5 are the only collagen genes that have been implicated in inherited nephropathies in humans. However, the causative genes for a number of hereditary multicystic kidney diseases, myopathies with cramps, and heritable intracranial aneurysms remain unknown. METHODS: We characterized the renal and extrarenal phenotypes of subjects from three families who had an autosomal dominant...
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