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Identification of a novel MYO7A mutation in Usher syndrome type 1
Usher syndrome (USH) is an autosomal recessive disease characterized by deafness and retinitis pigmentosa. In view of the high phenotypic and genetic heterogeneity in USH, performing genetic screening with traditional methods is impractical. In the present study, we carried out targeted next-generat...
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| Publicado no: | Oncotarget |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Impact Journals LLC
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5788640/ https://ncbi.nlm.nih.gov/pubmed/29416772 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.23408 |
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