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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

Schulz, H.L., Grassmann, F. , Kellner, U., Spital, G., Rüther, K., Jägle, H., Hufendiek, K., Rating, P., Weber, Bernhard H. F., make_name_string expected hash reference, make_name_string expected hash reference and make_name_string expected hash reference (2017) 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 (IOVS) 58, pp. 394-403.

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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 ...

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Item type:Article
Date:2017
Institutions:Medicine > Lehrstuhl für Humangenetik
Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1167/iovs.16-19936DOI
28118664PubMed ID
Keywords:CASSETTE TRANSPORTER ABCA4; CONE-ROD DYSTROPHY; MACULAR DEGENERATION; RETINAL DYSTROPHIES; BIOCHEMICAL DEFECTS; TRANSCRIPTOME; REVEALS; ALLELES; PROTEIN; CELLS; Stargardt disease; ABCA4; mutation screening; genetic risk score
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35104
Owner only: item control page

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