Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association

Involvement of GJB2 noncoding regions in hearing loss (HL) has not been extensively investigated. However, three noncoding mutations, c.-259C>T, c.-23G>T, and c.-23+1G>A, were reported. Also, c.-684_-675del, of uncertain pathogenicity, was found upstream of the basal promoter. We performed...

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Detalles Bibliográficos
Autores principales: Matos, T. D., Simões-Teixeira, H., Caria, H., Cascão, R., Rosa, H., O'Neill, A., Dias, Ó., Andrea, M. E., Kelsell, D. P., Fialho, G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335567/
https://www.ncbi.nlm.nih.gov/pubmed/22567369
http://dx.doi.org/10.4061/2011/827469

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335567/
https://www.ncbi.nlm.nih.gov/pubmed/22567369
http://dx.doi.org/10.4061/2011/827469

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