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Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene
The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and carrier frequencies as part of our study and summarize previously reported ones for the Romanian population. In total, 284 unrelated...
Autores principales: | Riza, Anca-Lelia, Alkhzouz, Camelia, Farcaș, Marius, Pîrvu, Andrei, Miclea, Diana, Mihuț, Gheorghe, Pleșea, Răzvan-Mihail, Ștefan, Delia, Drodar, Mihaela, Lazăr, Călin, Study, on behalf of the HINT, Study, on behalf of the FUSE, Ioana, Mihai, Popp, Radu |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858611/ https://www.ncbi.nlm.nih.gov/pubmed/36672810 http://dx.doi.org/10.3390/genes14010069 |
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