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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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Detaylı Bibliyografya
Yayımlandı:J Hum Genet
Asıl Yazarlar: Yan, Denise, Ouyang, Xiaomei, Patterson, D Michael, Du, Li Lin, Jacobson, Samuel G, Liu, Xue-Zhong
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2009
Konular:
Online Erişim: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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