Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. - AlzForum Alzheimer Research Paper of the Week


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Home: Papers of the Week

Annotation

	Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008 Aug;40(8):999-1003. PubMed Abstract

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