Ontology highlight
ABSTRACT:
SUBMITTER: Cullinane AR
PROVIDER: S-EPMC3501949 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Cullinane Andrew R AR Curry James A JA Golas Gretchen G Pan James J Carmona-Rivera Carmelo C Hess Richard A RA White James G JG Huizing Marjan M Gahl William A WA
Pigment cell & melanoma research 20120802 5
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 genes encoding the biogenesis of lysosome-related organelles complex-1 (BLOC-1) protei ...[more]