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Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing
Usher syndrome type 1 (USH1) is the most severe of the three USH subtypes due to its profound hearing loss, absent vestibular response and retinitis pigmentosa appearing at a prepubescent age. Six causative genes have been identified for USH1, making early diagnosis and therapy possible through DNA...
Zapisane w:
| Wydane w: | J Hum Genet |
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| Główni autorzy: | , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Nature Publishing Group
2016
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4893503/ https://ncbi.nlm.nih.gov/pubmed/26791358 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2015.168 |
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