Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation.
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | International Journal of Pediatric Otorhinolaryngology |
| Vol/bind | 75 |
| Udgave nummer | 1 |
| Sider (fra-til) | 89-94 |
| Antal sider | 6 |
| ISSN | 0165-5876 |
| DOI | |
| Status | Udgivet - 1 jan. 2011 |
ID: 33495696