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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2003
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Article
Accés en línia: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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