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A novel LOXHD1 variant in a Chinese couple with hearing loss
OBJECTIVE: To perform molecular diagnosis and genetic counseling in a young Chinese couple with congenital hearing loss. METHODS: Variant screening analysis was performed by PCR and direct Sanger sequencing or targeted next-generation sequencing of all known hearing loss genes. Novel variants were e...
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| Опубликовано в: : | J Int Med Res |
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| Главные авторы: | , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
SAGE Publications
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7045666/ https://ncbi.nlm.nih.gov/pubmed/31709873 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060519884197 |
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