ロード中...

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...

詳細記述

保存先:
書誌詳細
出版年:J Hum Genet
主要な著者: Yan, Denise, Ouyang, Xiaomei, Patterson, D Michael, Du, Li Lin, Jacobson, Samuel G, Liu, Xue-Zhong
フォーマット: Artigo
言語:Inglês
出版事項: 2009
主題:
オンライン・アクセス: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
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!