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Letter

Nature Genetics 35, 84–89 (1 September 2003) | doi:10.1038/ng1229

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

Hermansky-Pudlak syndrome (HPS; MIM 203300) is a genetically heterogeneous disorder characterized by oculocutaneous albinism, prolonged bleeding and pulmonary fibrosis due to abnormal vesicle trafficking to lysosomes and related organelles, such as melanosomes and platelet dense granules. In mice, at least 16 loci are associated with HPS, including sandy (sdy; ref.