Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

The mutational spectrum of many genes and their contribution to the global prevalence of hereditary hearing loss is still widely unknown. In this study, we have performed the mutational screening of EYA4 gene by DHLPC and NGS in a large cohort of 531 unrelated Spanish probands and one Australian fam...

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Detalles Bibliográficos
Autores principales: Morín, Matias, Borreguero, Lucía, Booth, Kevin T, Lachgar, María, Huygen, Patrick, Villamar, Manuela, Mayo, Fernando, Barrio, Luis Carlos, Santos Serrão de Castro, Luciana, Morales, Carmelo, del Castillo, Ignacio, Arellano, Beatriz, Tellería, Dolores, Smith, Richard J. H., Azaiez, Hela, Moreno Pelayo, M. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7148344/
https://www.ncbi.nlm.nih.gov/pubmed/32277154
http://dx.doi.org/10.1038/s41598-020-63256-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7148344/
https://www.ncbi.nlm.nih.gov/pubmed/32277154
http://dx.doi.org/10.1038/s41598-020-63256-5

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