DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy
About this item
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Author / Creator
Guo, Ruolan , Zhu, Guosheng , Zhu, Huimin , Ma, Ruiyu , Peng, Ying , Liang, Desheng and Wu, Lingqian
Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Dystrophinopathy is a group of inherited diseases caused by mutations in the DMD gene. Within the dystrophinopathy spectrum, Duchenne and Becker muscular dystrophies are common X-linked recessive disorders that mainly feature striated muscle necrosis. We combined multiplex ligation-dependent probe amplification with Sanger sequencing to detect larg...
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Full title
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy
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TN_cdi_proquest_miscellaneous_1722165994
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1722165994
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2015.43
