Article
Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.
Investigative ophthalmology & visual science - 1 Mar 2007
Kondo Hiroyuki, Qin Minghui, Kusaka Shunji, Tahira Tomoko, Hasebe Haruyuki, Hayashi Hideyuki, Uchio Eiichi, Hayashi Kenshi
Abstract excerpt
PURPOSE: To search for mutations in the Norrie disease gene (NDP) in Japanese patients with familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) and to delineate the mutation-associated clinical features. METHODS: Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR, from 3 probands...
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