Identification and Characterization of Aberrant GAA Pre‐mRNA Splicing in Pompe Disease Using a Generic Approach. Issue 1 (1st December 2014)

• Record Type: Journal Article
• Authors: Bergsma, Atze J.; Kroos, Marian; Hoogeveen‐Westerveld, Marianne; Halley, Dicky; van der Ploeg, Ans T.; Pijnappel, W. W.
• Is Part Of: Human mutation. Volume 36:Issue 1(2015:Jan.)
• Page Start: 57
• Page End: 68
• Publication Date: 2014-12-01
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22705
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22705-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Pathogenic genomic variants affecting splicing are often missed and/or poorly characterized. Here a fast and simple approach is presented for the unbiased detection and characterization of such variants. The approach has been applied to the <italic>GAA</italic> gene causing Pompe disease and resulted in the detection of numerous novel splicing events. It is adaptable for application to other human monogenic disorders. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh30vv3dfq" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>