A BLOC-1 Mutation Screen Reveals a Novel BLOC1S3 Mutation in Hermansky-Pudlak Syndrome Type 8 (HPS-8)

Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder of lysosome-related organelle biogenesis and is characterized by oculocutaneous albinism and a bleeding diathesis. Over the past decade, we screened 250 patients with HPS-like symptoms for mutations in the genes responsible for...

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Hauptverfasser: Cullinane, Andrew R, Curry, James A, Golas, Gretchen, Pan, James, Carmona-Rivera, Carmelo, Hess, Richard A, White, James G, Huizing, Marjan, Gahl, William A
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2012
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3501949/
https://ncbi.nlm.nih.gov/pubmed/22709368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1755-148X.2012.01029.x
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