Article
A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa.
Molecular vision - 4 Dec 2006
Mylvaganam Geetha H, McGee Terri L, Berson Eliot L, Dryja Thaddeus P
Abstract excerpt
PURPOSE: To search for mutations in the GNB1 gene (coding for the transducin beta1-subunit protein) in patients with autosomal dominant retinitis pigmentosa. METHODS: We screened 185 unrelated patients with autosomal dominant retinitis pigmentosa (ADRP) using direct genomic sequencing of the three non-coding exons and 9 coding exons, along with immediately flanking intron DNA. RESULTS: We found 2 polymorphisms,...
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