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Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations
BACKGROUND: Recessive mutations in GJB2 is the most common cause of genetic hearing loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 variants in Chinese Han deaf patients and to investigate the underlying causative genes in patients with mono-allelic GJB2 muta...
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| Опубликовано в: : | Orphanet J Rare Dis |
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| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2020
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6986010/ https://ncbi.nlm.nih.gov/pubmed/31992338 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-1311-2 |
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