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Title

Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness

AuthorsOtaegui, D.; Irizar, H.; Goicoechea, M.; Pérez-Tur, Jordi ; Belar, M.; López de Munain, Adolfo
KeywordsA1555G
Neurosensory non-syndromic deafness
Mitochondria
TRMU
MTO1
mitochondrial SNPS
Issue Date7-Apr-2008
PublisherS. Karger AG
CitationAudiol Neurootol. 13 (5): 320-7
AbstractThe aim of this work is to characterize possible modifying factors in 2 large families carrying the A1555G mitochondrial mutation. The heteroplasmy of the mutation, the presence of aminoglycosides, the cosegregation with other mitochondrial mutations, the proposed linkage in chromosome 8 and the association with TRMU and MTO1 genes were studied. None of the mentioned modifying factors were related with the phenotype presentation of A1555G mutation. However, TRMU G28T single nucleotide polymorphism is present in 1 of the studied families.
DescriptionThe definitive version is available at http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=000124280
Publisher version (URL)http://dx.doi.org/10.1159/000124280
URIhttp://hdl.handle.net/10261/8929
DOI10.1159/000124280
Appears in Collections:(IBV) Artículos
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