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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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Detalhes bibliográficos
Main Authors: McGee, Terri L., Seyedahmadi, Babak Jian, Sweeney, Meredith O., Dryja, Thaddeus P., Berson, Eliot L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Acesso em linha: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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