A Novel DES L115F Mutation Identified by Whole Exome Sequencing is Associated with Inherited Cardiac...
A Novel DES L115F Mutation Identified by Whole Exome Sequencing is Associated with Inherited Cardiac Conduction Disease
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Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Inherited cardiac conduction disease (CCD) is rare; it is caused by a large number of mutations in genes encoding cardiac ion channels and cytoskeletal proteins. Recently, whole-exome sequencing has been successfully used to identify causal mutations for rare monogenic Mendelian diseases. We used trio-based whole-exome sequencing to study a Chinese...
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A Novel DES L115F Mutation Identified by Whole Exome Sequencing is Associated with Inherited Cardiac Conduction Disease
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6940838
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6940838
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms20246227
