Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

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Title: Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Authors: Landouré, Guida1,2,3,4, Zdebik, Anselm A.1,2, Martinez, Tara L.5,6, Burnett, Barrington G.3, Stanescu, Horia C.1,2, Inada, Hitoshi7, Yijun Shi3, Taye, Addis A.3, Lingling Kong5, Munns, Clare H.8,9, Choo, Shelly S.7, Phelps, Christopher B.7, Paudel, Reema10, Houlden, Henry10, Ludlow, Christy L.11, Caterina, Michael J.8,9, Gaudet, Rachelle7, Kleta, Robert1,2, Fischbeck, Kenneth H.3, Sumner, Charlotte J.5 csumner1@jhmi.edu
Source: Nature Genetics. Feb2010, Vol. 42 Issue 2, p170-174. 5p. 2 Diagrams, 1 Chart, 2 Graphs.
Database: Academic Search Ultimate
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  Data: Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
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  Data: <searchLink fieldCode="JN" term="%22Nature+Genetics%22">Nature Genetics</searchLink>. Feb2010, Vol. 42 Issue 2, p170-174. 5p. 2 Diagrams, 1 Chart, 2 Graphs.
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