Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

BACKGROUND: Hearing loss with enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by bi-allelic mutations of SLC26A4. However, many EVA patients have non-diagnostic SLC26A4 genotypes with only one or no detectable mutant alleles. METHODS AND RESULTS: In this st...

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Autori principali: Choi, B Y, Madeo, A C, King, K A, Zalewski, C K, Pryor, S P, Muskett, J A, Nance, W E, Butman, J A, Brewer, C C, Griffith, A J
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2941511/
https://ncbi.nlm.nih.gov/pubmed/19578036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.067892
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