Article
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
Investigative ophthalmology & visual science - 1 Jul 2004
Toomes Carmel, Bottomley Helen M, Scott Sheila, Mackey David A, Craig Jamie E, Appukuttan Binoy, Stout J Timothy, Flaxel Christina J, Zhang Kang, Black Graeme C M, Fryer Alan, Downey Louise M, Inglehearn Chris F
Abstract excerpt
PURPOSE: Mutations in the frizzled-4 gene (FZD4) have recently been associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) in families linking to the EVR1 locus on the long arm of chromosome 11. The purpose of this study was to screen FZD4 in a panel of 40 patients with FEVR to identify the types and location of mutations and to calculate what proportion of this heterogeneous condition is...
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