Molecular Features of SLC26A4 Common Variant p.L117F

Molecular Features of SLC26A4 Common Variant p.L117F

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

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Bibliographic Details
Main Authors: Arnoldas Matulevičius, Emanuele Bernardinelli, Zippora Brownstein, Sebastian Roesch, Karen B. Avraham, Silvia Dossena
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Journal of Clinical Medicine
Subjects:
hearing loss
<i>SLC26A4</i>
pendrin
DFNB4
Pendred syndrome
functional testing
Online Access:https://www.mdpi.com/2077-0383/11/19/5549

Internet

https://www.mdpi.com/2077-0383/11/19/5549

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