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Region Hovedstaden - en del af Københavns Universitetshospital
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Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy

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Vis graf over relationer
Pathogenic variations in the ABCA4 gene were originally recognized as genetic background for the autosomal recessive disorders Stargardt disease and fundus flavimaculatus, but have expanded to embrace a diversity of retinal diseases, giving rise to the new diagnostic term, ABCA4-related retinopathy. Diagnostic genotyping of ABCA4 is complicated by the large size of the gene and the existence of approximately 600 known pathogenic variations, along with numerous rare polymorphisms. A commercial diagnostic array-based assay has been developed targeting known mutations, however a conclusive genetic diagnosis must rely on a comprehensive genetic screening as the mutation spectrum of ABCA4-related retinopathies continues to expand.
OriginalsprogEngelsk
TidsskriftOphthalmic Genetics
Vol/bind33
Udgave nummer4
Sider (fra-til)225-31
Antal sider7
ISSN1381-6810
DOI
StatusUdgivet - 2012

ID: 36821681