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Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II
Usher syndrome type II (USH2) is an autosomal recessive disorder characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa (RP). To identify novel mutations and determine the frequency of USH2A mutations as a cause of USH2, we have carried out mut...
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| Publicado no: | J Hum Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4511341/ https://ncbi.nlm.nih.gov/pubmed/19881469 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2009.107 |
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