Reagents, Molecular Assay, Gene Anomaly, Mutation, HPS3
Definition : Molecular assay reagents intended to identify mutations in the Hermansky-Pudlak syndrome 3 (HPS3) gene, located at chromosome 3q24, which is involved in early stages of melanosome biogenesis and maturation. Mutations at this locus have been identified in patients with Hermansky-Pudlak syndrome type 3.
Entry Terms : "Type 3 Hermansky-Pudlak Syndrome Gene Mutation Detection Reagents" , "HPS3 Gene Mutation Detection Reagents"
UMDC code : 24474