Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas. Issue 8 (17th June 2015)

• Record Type: Journal Article
• Authors: Su, Peiqiang; Wang, Ye; Cooper, David N.; Zhu, Wenjuan; Huang, Dongsheng; Férec, Claude; Wang, Yiming; Chen, Jian‐Min
• Is Part Of: Human mutation. Volume 36:Issue 8(2015:Aug.)
• Page Start: 758
• Page End: 763
• Publication Date: 2015-06-17
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22815
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22815-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Additional mutational complexity associated with CNV harbors important informational clues as to the mechanisms underlying CNV formation. Correct annotation of the additional mutational complexity is, however, a prerequisite for establishing the mutational mechanism. Here we illustrate this point through the characterization a novel disease‐causing duplication CNV. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj296tvv5q" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>