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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Detaylı Bibliyografya
Yayımlandı:Sci Rep
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2020
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7148344/
https://ncbi.nlm.nih.gov/pubmed/32277154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-63256-5
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