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mitochondrial rRNA mutation

Pathology: - mitochondrial rRNA mutations may be associated with aminoglycoside-induced deafness & non-syndromic deafness

Related

mitochondrial ribosomal RNA (mt rRNA)

General

gene mutation testing; gene mutation analysis

References

  1. Loinc
  2. Prezant TR et al Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet. 1993 Jul;4(3):289-94. PMID: 7689389