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Article

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.

Biochemical and biophysical research communications - 24 Mar 2006

Ballana Ester, Morales Estela, Rabionet Raquel, Montserrat Bàrbara, Ventayol Marina, Bravo Olga, Gasparini Paolo, Estivill Xavier

Abstract excerpt

Mutations in the mitochondrial DNA are one of the most important causes of sensorineural hearing loss, especially in the 12S ribosomal RNA (rRNA) gene. We have analyzed the mtDNA 12S rRNA gene in a cohort of 443 families with hearing impairment, and have identified the A1555G mutation in 69 unrelated cases. A1555G is not a fully penetrant change, since only 63% of subjects with this change have developed hearing...

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Identifiers

PMID: 16458854
DOI: 10.1016/j.bbrc.2006.01.049

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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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