Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Landouré G; Zdebik AA; Martinez TL; Burnett BG; Stanescu HC; Inada H; Shi Y; Taye AA; Kong L; Munns CH; Choo SS; Phelps CB; Paudel R; Houlden H; Ludlow CL; Caterina MJ; Gaudet R; Kleta R; Fischbeck KH; Sumner CJ; Nature Genetics, 2010, vol. 42, issue 2, p 170, ISSN 15461718. ISBN 15461718.

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