Article
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.
Pigment cell & melanoma research - 1 Sept 2012
Cullinane Andrew R, Curry James A, Golas Gretchen, Pan James, Carmona-Rivera Carmelo, Hess Richard A, White James G, Huizing Marjan, Gahl William A
Abstract excerpt
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 HPS subtypes 1-6. We identified 38 individuals with no functional mutations, and therefore, we analyzed all eight...
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