A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized by oculocutaneous albinism and a bleeding diathesis due to absent platelet delta granules. HPS is a genetically heterogeneous disorder of intracellular vesicle biogenesis. We first screened all our patients with HPS-li...

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Auteurs principaux: Cullinane, Andrew R., Curry, James A., Carmona-Rivera, Carmelo, Summers, C. Gail, Ciccone, Carla, Cardillo, Nicholas D., Dorward, Heidi, Hess, Richard A., White, James G., Adams, David, Huizing, Marjan, Gahl, William A.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2011
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3113249/
https://ncbi.nlm.nih.gov/pubmed/21665000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.05.009
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