Copy number variation in the ATP‐binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum. Issue 3 (8th March 2015)

• Record Type: Journal Article
• Authors: Kringen, Marianne K.; Stormo, Camilla; Berg, Jens Petter; Terry, Sharon F.; Vocke, Christine M.; Rizvi, Samar; Hendig, Doris; Piehler, Armin P.
• Is Part Of: Molecular genetics & genomic medicine. Volume 3:Issue 3(2015:May)
• Page Start: 233
• Page End: 237
• Publication Date: 2015-03-08
• Subjects: Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.137
• Languages: English
• ISSNs: 2324-9269

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="mgg3137-abs-0002"> <title> <x xml:space="preserve">Abstract</x> </title> <p>In this study, principally by pyrosequencing, we were able to detect known and possibly new deletions in the <italic>ABCC6</italic> gene that may have caused pseudoxanthoma elasticum (PXE). Also, duplication of the <italic>ABCC6P2</italic> pseudogene was common in PXE patients which may possibly affect the PXE phenotype. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjn22vjsk" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>