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A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

The DFNB1 subtype of autosomal recessive, nonsyndromic hearing impairment, caused by mutations affecting the GJB2 (connection-26) gene, is highly prevalent in most populations worldwide. DFNB1 hearing impairment is mostly severe or profound and usually appears before the acquisition of speech (preli...

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Detalles Bibliográficos
Autores principales:	Gandía, Marta, del Castillo, Francisco J., Rodríguez-Álvarez, Francisco J., Garrido, Gema, Villamar, Manuela, Calderón, Manuela, Moreno-Pelayo, Miguel A., Moreno, Felipe, del Castillo, Ignacio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765306/ https://www.ncbi.nlm.nih.gov/pubmed/24039984 http://dx.doi.org/10.1371/journal.pone.0073566

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