Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

Hjortshøj, Tina Duelund; Grønskov, Karen; Philp, Alisdair R; Nishimura, Darryl Y; Adeyemo, Adebowale; Rotimi, Charles N; Sheffield, Val C; Rosenberg, Thomas; Brøndum-Nielsen, Karen.
Am J Med Genet A; 146A(4): 517-20, 2008 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-18203199