Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Authors: Wei Li, Qing Zhang, Naoki Oiso, Edward K. Novak, Rashi Gautam, Edward P. O’Brien, Caroline L. Tinsley, Derek J. Blake, Richard A. Spritz, Neal G. Copeland, Nancy A. Jenkins, Dominick Amato, Bruce A. Roe, Marta Starcevic, Esteban C. Dell’Angelica, Rosemary W. Elliott, Vishnu S. Mishra, Stephen F. Kingsmore, Richard Paylor, Richard T. Swank - Nature Genetics 2003 cited by 432