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Melanocytes Derived from Patients with Hermansky–Pudlak Syndrome Types 1, 2, and 3 Have Distinct Defects in Cargo Trafficking

Hermansky–Pudlak Syndrome (HPS) is a genetically heterogeneous disorder in which mutations in one of several genes interrupts biogenesis of melanosomes, platelet dense bodies, and lysosomes. Affected patients have oculocutaneous albinism, a bleeding diathesis, and sometimes develop granulomatous col...

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Autors principals: Richmond, Bonnie, Huizing, Marjan, Knapp, Jill, Koshoffer, Amy, Zhao, Yang, Gahl, William A., Boissy, Raymond E.
Format: Artigo
Idioma:Inglês
Publicat: 2005
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1635963/
https://ncbi.nlm.nih.gov/pubmed/15675963
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.0022-202X.2004.23585.x
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