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Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population
Recent advances in targeted genomic enrichment with massively parallel sequencing (TGE+MPS) have made comprehensive genetic testing for non-syndromic hearing loss (NSHL) possible. After excluding NSHL subjects with causative mutations in GJB2 and the MT-RNR1 (1555A>G) variant by Sanger sequencing...
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| הוצא לאור ב: | Clin Genet |
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| Main Authors: | , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2015
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4783301/ https://ncbi.nlm.nih.gov/pubmed/26346818 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12677 |
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