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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Hum Genet
मुख्य लेखकों: Yan, Denise, Ouyang, Xiaomei, Patterson, D Michael, Du, Li Lin, Jacobson, Samuel G, Liu, Xue-Zhong
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2009
विषय:
ऑनलाइन पहुंच: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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