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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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Bibliografiske detaljer
Udgivet i:J Hum Genet
Main Authors: Yan, Denise, Ouyang, Xiaomei, Patterson, D Michael, Du, Li Lin, Jacobson, Samuel G, Liu, Xue-Zhong
Format: Artigo
Sprog:Inglês
Udgivet: 2009
Fag:
Online adgang: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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