A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts
Abstract Background Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants. Methods We collected blood samples...
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| Autors principals: | , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley
2020-10-01
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| Col·lecció: | Molecular Genetics & Genomic Medicine |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1002/mgg3.1447 |
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