학술논문
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
Document Type
Artikel
Author
Dai, J; Kim, OH; Cho, TJ; Schmidt-Rimpler, M; Tonoki, H; Takikawa, K; Haga, N; Miyoshi, K; Kitoh, H; Yoo, WJ; Choi, IH; Song, HR; Jin, DK; Kim, HT; Kamasaki, H; Bianchi, P; Grigelioniene, G; Nampoothiri, S; Minagawa, M; Miyagawa, S; Fukao, T; Marcelis, C; Jansweijer, MCE; Hennekam, RCM; Bedeschi, F; Mustonen, A; Jiang, Q; Ohashi, H; Furuichi, T; Unger, S; Zabel, B; Lausch, E; Superti-Furga, A; Nishimura, G; Ikegawa, S
Source
Journal of medical genetics. 47(10):704-709
Subject
Language
English
English
English
ISSN
1468-6244