Article
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Investigative ophthalmology & visual science - 1 Jan 2017
Schulz Heidi L, Grassmann Felix, Kellner Ulrich, Spital Georg, Rüther Klaus, Jägle Herbert, Hufendiek Karsten, Rating Philipp, Huchzermeyer Cord, Baier Maria J, Weber Bernhard H F, Stöhr Heidi
Abstract excerpt
Purpose: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. To establish the mutational spectrum and to assess effects of selected deep intronic and common genetic variants on disease, we performed a comprehensive sequence analysis in a large cohort of German STGD1 patients. Methods: DNA samples of 335 STGD1...
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