Reagents, Molecular Assay, Gene Anomaly, Mutation, HPS1
Definition : Molecular assay reagents intended to identify mutations in the Hermansky-Pudlak syndrome 1 (HPS1) gene, located at chromosome 10q23.1-q23.3, which encodes for a transmembrane protein that is a component of multiple cytoplasmic organelles and may be involved in intracellular protein sorting. Mutations at this locus have been identified in patients with Hermansky-Pudlak syndrome type 1.
Entry Terms : "Type 1 Hermansky-Pudlak Syndrome Gene Mutation Detection Reagents" , "HPS1 Gene Mutation Detection Reagents"
UMDC code : 24473