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Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
BACKGROUND: Usher syndrome type II (USH2) is an autosomal recessive disorder characterized by retinitis pigmentosa (RP) and mild to moderate sensorineural hearing loss. Mutations in the USH2A gene are the most common cause of USH2 and are also a cause of some forms of RP without hearing loss (ie non...
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| Auteurs principaux: | , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2010
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3070405/ https://ncbi.nlm.nih.gov/pubmed/20507924 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.075143 |
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