SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

Inherited hearing loss is extremely heterogeneous both clinically and genetically. In addition, the spectrum of deafness-causing genetic variants differs greatly among geographical areas and ethnicities. The identification of the causal mutation in affected families allows early diagnosis, clinical...

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Detalles Bibliográficos
Autores principales: Chiereghin, Chiara, Robusto, Michela, Mauri, Lucia, Primignani, Paola, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7902881/
https://www.ncbi.nlm.nih.gov/pubmed/33643381
http://dx.doi.org/10.3389/fgene.2021.606630

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7902881/
https://www.ncbi.nlm.nih.gov/pubmed/33643381
http://dx.doi.org/10.3389/fgene.2021.606630

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