In vitro analyses of suspected arrhythmogenic thin filament variants as a cause of sudden cardiac de...
In vitro analyses of suspected arrhythmogenic thin filament variants as a cause of sudden cardiac death in infants
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United States: National Academy of Sciences
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Language
English
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United States: National Academy of Sciences
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Contents
Sudden unexpected death of an infant (SUDI) is a devastating occurrence for families. To investigate the genetic pathogenesis of SUDI, we sequenced >70 genes from 191 autopsy-negative SUDI victims. Ten infants sharing a previously unknown variant in troponin I (TnI) were identified. The mutation (TNNI1 R37C+/−) is in the fetal/neonatal paralog of T...
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Full title
In vitro analyses of suspected arrhythmogenic thin filament variants as a cause of sudden cardiac death in infants
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6452669
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6452669
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ISSN
0027-8424,1091-6490
E-ISSN
1091-6490
DOI
10.1073/pnas.1819023116
