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Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome
BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder characterized by hearing impairment and vision dysfunction due to retinitis pigmentosa. Phenotypic and genetic heterogeneities of this disease make it impractical to obtain a genetic diagnosis by conventional Sanger sequencing. METH...
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| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4571113/ https://ncbi.nlm.nih.gov/pubmed/26377068 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0223-9 |
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