Article
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.
The British journal of ophthalmology - 1 Dec 2007
Michaelides M, Chen L L, Brantley M A, Andorf J L, Isaak E M, Jenkins S A, Holder G E, Bird A C, Stone E M, Webster A R
Abstract excerpt
AIM: To determine the frequency and nature of mutations in the gene ABCA4 in a cohort of patients with bull's-eye maculopathy (BEM). METHODS: A panel of 49 subjects (comprising 40 probands/families, 7 sibling pairs and a set of three sibs) with BEM, not attributable to toxic causes, was ascertained. Blood samples from each patient were used to extract genomic DNA, with subsequent mutation screening of the entire...
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