Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Guida Landouré; Jeremy M. Sullivan; Janel O. Johnson; Clare H. Munns; Yijun Shi; Oumarou Diallo; J. Raphael Gibbs; Rachelle Gaudet; Christy L. Ludlow; Kenneth H. Fischbeck; Bryan J. Traynor; Barrington G. Burnett; Charlotte J. Sumner

doi:10.1212/WNL.0b013e31825f04b2

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Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

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