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

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 granules1–3. In mice...

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Main Authors: Li, Wei, Zhang, Qing, Oiso, Naoki, Novak, Edward K, Gautam, Rashi, O'Brien, Edward P, Tinsley, Caroline L, Blake, Derek J, Spritz, Richard A, Copeland, Neal G, Jenkins, Nancy A, Amato, Dominick, Roe, Bruce A, Starcevic, Marta, Dell'Angelica, Esteban C, Elliott, Rosemary W, Mishra, Vishnu, Kingsmore, Stephen F, Paylor, Richard E, Swank, Richard T
格式: Artigo
語言:Inglês
出版: 2003
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2860733/
https://ncbi.nlm.nih.gov/pubmed/12923531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1229
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