Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene. Issue 12 (December 2014)

• Record Type: Journal Article
• Authors: Kergourlay, Virginie; Raï, Ghadi; Blandin, Gaëlle; Salgado, David; Béroud, Christophe; Lévy, Nicolas; Krahn, Martin; Bartoli, Marc
• Is Part Of: Human mutation. Volume 35:Issue 12(2014:Dec.)
• Page Start: 1532
• Page End: 1541
• Publication Date: 2014-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22710
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22710-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The fifty five exons of <italic>DYSF</italic> and their phasing are presented. Gradients of blue represent the strength of 5′ and 3′ splice sites, the darker the stronger.</p> <p> <inline-graphic xlink:href="ark:/27927/pgh2cpxhxmp" mimetype="image" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /> <italic>Intronic mutations</italic> for which a deleterious effect on splicing is suspected but not confirmed</p> <p> <inline-graphic xlink:href="ark:/27927/pgh2cpxhxgg" mimetype="image" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /> <italic>Intronic mutations</italic> for which a deleterious effect on splicing has been confirmed in patient</p> <p> <inline-graphic xlink:href="ark:/27927/pgh2cpxhxjk" mimetype="image" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /> <italic>Intronic mutations</italic> for which a deleterious effect on splicing has been shown both in patients RNA and by this study</p> <p> <inline-graphic xlink:href="ark:/27927/pgh2cpxhxdc" mimetype="image" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /> <italic>Intronic mutations</italic> for which a deleterious effect on splicing has been shown by this study</p> <p> <inline-graphic xlink:href="ark:/27927/pgh2cpxhxfx" mimetype="image" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /> <italic>Missense mutations</italic> for which a deleterious effect on splicing has been confirmed in patients and by this study</p> <p> <inline-graphic xlink:href="ark:/27927/pgh2cpxhxb8" mimetype="image" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /> <italic>Missense mutations</italic> for which a deleterious effect on splicing has been shown in our study <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh2cpxhxk4" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>