MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

BACKGROUND: Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or nonsyndromic hearing loss in families presenting with extremely variable cli...

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Detalles Bibliográficos
Autores principales: Ballana, Ester, Mercader, Josep Maria, Fischel-Ghodsian, Nathan, Estivill, Xavier
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2233610/
https://www.ncbi.nlm.nih.gov/pubmed/18154640
http://dx.doi.org/10.1186/1471-2350-8-81

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2233610/
https://www.ncbi.nlm.nih.gov/pubmed/18154640
http://dx.doi.org/10.1186/1471-2350-8-81

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