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

URN to cite this document:: urn:nbn:de:bvb:355-epub-351047
DOI to cite this document:: 10.5283/epub.35104

Schulz, H. L. ; Grassmann, F.

; Kellner, U. ; Spital, G. ; Rüther, K. ; Jägle, H. ; Hufendiek, K. ; Rating, P. ; Weber, Bernhard H. F.

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Date of publication of this fulltext: 27 Jan 2017 14:18

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Abstract

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 ...