Article ; Online: An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.
2018 Volume 8, Issue 1, Page(s) 14619
Abstract: Calcium regulation plays a central role in cardiac function. Several variants in the calcium channel ... ...
Abstract | Calcium regulation plays a central role in cardiac function. Several variants in the calcium channel Ca |
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MeSH term(s) | Adult ; African Continental Ancestry Group ; Arrhythmias, Cardiac/diagnosis ; Arrhythmias, Cardiac/ethnology ; Arrhythmias, Cardiac/genetics ; Arrhythmias, Cardiac/physiopathology ; Barium/metabolism ; Brugada Syndrome/diagnosis ; Brugada Syndrome/ethnology ; Brugada Syndrome/genetics ; Brugada Syndrome/physiopathology ; Calcium/metabolism ; Calcium Channels/genetics ; Calcium Channels/metabolism ; Calcium Channels, L-Type/genetics ; Calcium Channels, L-Type/metabolism ; Cations, Divalent ; Cohort Studies ; European Continental Ancestry Group ; Female ; Gene Expression ; Genetic Predisposition to Disease ; Heart Arrest/diagnosis ; Heart Arrest/ethnology ; Heart Arrest/genetics ; Heart Arrest/physiopathology ; Humans ; Ion Transport ; Male ; Middle Aged ; Mutation, Missense ; Patch-Clamp Techniques ; Pedigree ; Risk Factors ; Ventricular Fibrillation/diagnosis ; Ventricular Fibrillation/ethnology ; Ventricular Fibrillation/genetics ; Ventricular Fibrillation/physiopathology |
Chemical Substances | CACNA1C protein, human ; CACNA2D1 protein, human ; CACNB2 protein, human ; Calcium Channels ; Calcium Channels, L-Type ; Cations, Divalent ; Barium (24GP945V5T) ; Calcium (SY7Q814VUP) |
Language | English |
Publishing date | 2018-10-02 |
Publishing country | England |
Document type | Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't |
ZDB-ID | 2615211-3 |
ISSN | 2045-2322 ; 2045-2322 |
ISSN (online) | 2045-2322 |
ISSN | 2045-2322 |
DOI | 10.1038/s41598-018-32867-4 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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