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

Marta Gandía; Francisco J. del Castillo; Francisco J. Rodríguez-Álvarez; Gema Garrido; Manuela Villamar; Manuela Calderón; Miguel A. Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo

doi:10.1371/journal.pone.0073566

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Peer-reviewed

Research Article

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

Marta Gandía,

Affiliations Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Francisco J. del Castillo,

Affiliations Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Francisco J. Rodríguez-Álvarez,

Affiliations Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Gema Garrido,

Affiliations Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Manuela Villamar,

Affiliations Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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Manuela Calderón,

Affiliation Servicio de Otorrinolaringología, Hospital Universitario Ramón y Cajal, Madrid, Spain
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Miguel A. Moreno-Pelayo,

Affiliations Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Felipe Moreno,

Affiliations Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Ignacio del Castillo

* E-mail: ignacio.castillo@salud.madrid.org

Affiliations Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯

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

Marta Gandía,
Francisco J. del Castillo,
Francisco J. Rodríguez-Álvarez,
Gema Garrido,
Manuela Villamar,
Manuela Calderón,
Miguel A. Moreno-Pelayo,
Felipe Moreno,
Ignacio del Castillo

Published: September 6, 2013
https://doi.org/10.1371/journal.pone.0073566

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18 Mar 2014
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splice site mutation c.-22-2A>C Posted by ivona_sansovic on 17 Mar 2014 at 13:10 GMT

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