A unique triadin exon deletion causing a null phenotype
HeartRhythm Case Rep
.
2018 Aug 4;4(11):514-518.
doi: 10.1016/j.hrcr.2018.07.014.
eCollection 2018 Nov.
Authors
Barry M O'Callaghan
1
,
Jules C Hancox
2
,
Alan G Stuart
1
,
Catherine Armstrong
1
,
Maggie M Williams
3
,
Alison Hills
3
,
Hazel Pearce
3
,
Carolyn L Dent
3
,
Mary Gable
3
,
Mark A Walsh
1
Affiliations
1
Bristol Royal Hospital for Children, Bristol, United Kingdom.
2
School of Physiology and Pharmacology, Cardiovascular Research Laboratories, University of Bristol, Bristol, United Kingdom.
3
Genomic Diagnostics Laboratory, University Hospital Bristol, Bristol, United Kingdom.
PMID:
30479949
PMCID:
PMC6241331
DOI:
10.1016/j.hrcr.2018.07.014
No abstract available
Keywords:
CPVT; Cardiac arrest; Pediatrics; Triadin; Ventricular fibrillation.
Publication types
Case Reports