RNA sequencing reveals abnormal LDB3 splicing in sudden cardiac death
RNA sequencing reveals abnormal LDB3 splicing in sudden cardiac death
About this item
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Publisher
Ireland: Elsevier B.V
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Language
English
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Publisher
Ireland: Elsevier B.V
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Scope and Contents
Contents
•Only exome sequencing misdiagnosed a rare variant as pathogenic.•RNA-seq showed abnormal alternative splicing of LDB3.•These results lead the diagnosis that the patient is DM1.•We advocate RNA-seq in cases of muscular diseases and sudden cardiac death.
The aim of this study is to determine the molecular mechanism of sudden death in a previously...
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Full title
RNA sequencing reveals abnormal LDB3 splicing in sudden cardiac death
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TN_cdi_proquest_miscellaneous_2275271534
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2275271534
Other Identifiers
ISSN
0379-0738
E-ISSN
1872-6283
DOI
10.1016/j.forsciint.2019.109906
