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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

   

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