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

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 Mishra, Stephen F. Kingsmore, Richard E. Paylor, Richard T. Swank

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Medicine & Life Sciences