Molecular Features of SLC26A4 Common Variant p.L117F

The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal recessive hearing loss. SLC26A4 c.349C>T, p.L117F is a relatively common allele in the Ashkenazi Jewish community, where its minor allele freque...

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Detalles Bibliográficos
Autores principales: Matulevičius, Arnoldas, Bernardinelli, Emanuele, Brownstein, Zippora, Roesch, Sebastian, Avraham, Karen B., Dossena, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570580/
https://www.ncbi.nlm.nih.gov/pubmed/36233414
http://dx.doi.org/10.3390/jcm11195549

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570580/
https://www.ncbi.nlm.nih.gov/pubmed/36233414
http://dx.doi.org/10.3390/jcm11195549

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