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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

   

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