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Reagents, Molecular Assay, Gene Anomaly, Mutation, MT-RNR1

Definition : Molecular assay reagents intended to identify mutations in the mitochondrially encoded 12S, RNA (MT-RNR1) gene, located in the mitochondrial genome, which provides instructions for making ribosomal 12S RNA present only in mitochondria. Mutations at this locus have been identified in patients with mitochondrial nonsyndromic hearing loss and deafness.

Entry Terms : "MTMR1-Related Mitochondrial Nonsyndromic Hearing Loss/Deafness Gene Mutation Reagents" , "Mitochondrial Nonsyndromic Hearing Loss/Deafness Gene Mutation Reagents" , "Nonsyndromic Hearing Loss/Deafness (NSHLD) Gene Mutation Reagents" , "Deafness Gene Mutation Reagents" , "MT-RNR1Gene Mutation Detection Reagents"

UMDC code : 24626

   

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