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Reagents, Molecular Assay, Gene Anomaly, Mutation, CHM

Definition : Molecular assay reagents intended to identify mutations in the choroideremia (CHM) gene, located at chromosome Xq21.2, which encodes for the Rab escort protein-1 (REP1) that is involved in membrane trafficking. Mutations at this locus have been identified in most patients with choroideremia (X-linked blindness) and other hereditary eye diseases.

Entry Terms : "Night Blindness Gene Mutation Detection Reagents" , "Choroideremia Gene Mutation Detection Reagents" , "CHM Gene Mutation Detection Reagents"

UMDC code : 24338

   

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Applied Biosystems

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