Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes / Valente EM; Logan CV; Mougou-Zerelli S; Lee JH; Silhavy JL; Brancati F; Iannicelli M; Travaglini L; Romani S; Illi B; Adams M; Szymanska K; Mazzotta A; Lee JE; Tolentino JC; Swistun D; Salpietro CD; Fede C; Gabriel S; Russ C; Cibulskis K; Sougnez C; Hildebrandt F; Otto EA; Held S; Diplas BH; Davis EE; Mikula M; Strom CM; Ben-Zeev B; Lev D; Sagie TL; Michelson M; Yaron Y; Krause A; Boltshauser E; Elkhartoufi N; Roume J; Shalev S; Munnich A; Saunier S; Inglehearn C; Saad A; Alkindy A; Thomas S; Vekemans M; Dallapiccola B; Katsanis N; Johnson CA; Attié-Bitach T; Gleeson JG.. - In: NATURE GENETICS. - ISSN 1061-4036. - 42(2010), pp. 619-625.
Titolo: | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. |
Autori: | |
Data di pubblicazione: | 2010 |
Rivista: | |
Handle: | http://hdl.handle.net/11386/3949726 |
Appare nelle tipologie: | 1.1.2 Articolo su rivista con ISSN |