Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

Dai, J (author)

Kim, OH (author)

Cho, TJ (author)

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Schmidt-Rimpler, M (author)

Tonoki, H (author)

Takikawa, K (author)

Haga, N (author)

Miyoshi, K (author)

Kitoh, H (author)

Yoo, WJ (author)

Choi, IH (author)

Song, HR (author)

Jin, DK (author)

Kim, HT (author)

Kamasaki, H (author)

Bianchi, P (author)

Grigelioniene, G (author)

Karolinska Institutet

Nampoothiri, S (author)

Minagawa, M (author)

Miyagawa, S (author)

Fukao, T (author)

Marcelis, C (author)

Jansweijer, MCE (author)

Hennekam, RCM (author)

Bedeschi, F (author)

Mustonen, A (author)

Jiang, Q (author)

Ohashi, H (author)

Furuichi, T (author)

Unger, S (author)

Zabel, B (author)

Lausch, E (author)

Superti-Furga, A (author)

Nishimura, G (author)

Ikegawa, S (author)

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 (creator_code:org_t)

2010-06-24

2010

English.

In: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 47:10, s. 704-709

Related links:

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• Journal article (peer-reviewed)