Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT.
Li W, et al. Among authors: starcevic m.
Nat Genet. 2003 Sep;35(1):84-9. doi: 10.1038/ng1229. Epub 2003 Aug 17.
Nat Genet. 2003.
PMID: 12923531
Free PMC article.