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Article

Mitochondrial mutation associated with nonsyndromic deafness.

American journal of otolaryngology - 1 Jan 2000

Fischel-Ghodsian N, Prezant T R, Fournier P, Stewart I A, Maw M

Abstract excerpt

PURPOSE: The first mutation associated with nonsyndromic deafness has recently been identified in pedigrees with susceptibility to aminoglycoside ototoxicity and in a large Arab-Israeli pedigree. The mutation is maternally transmitted, and is a nucleotide substitution in the mitochondrial 12S ribosomal RNA gene. A different sequence change, in the mitochondrial tRNA(Ser)(UCN)/COI gene, has been proposed as a...

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PMID: 8572257
DOI: 10.1016/0196-0709(95)90078-0

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UCN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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