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Article

Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes.

Genetic testing and molecular biomarkers - 1 Apr 2009

Rydzanicz Małgorzata, Wróbel Maciej, Cywińska Karolina, Froehlich Dominika, Gawecki Wojciech, Szyfter Witold, Szyfter Krzysztof

Abstract excerpt

Mutations in mitochondrial DNA are associated potentially with nonsyndromic and aminoglycoside-induced hearing loss. Several nucleotide changes associated with hearing impairment were described; however, a variable frequency of deafness-associated mutations in different populations has been observed. The aim of the present study was to determine the frequency of pathological mutations in mitochondrial 12S rRNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19371214
DOI: 10.1089/gtmb.2008.0098

Genes

UCN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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