A Pathogenic Variant inALPK3Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy
- 1 December 2020
- journal article
- letter
- Published by Wolters Kluwer Health in Circulation: Genomic and Precision Medicine
- Vol. 13 (6) , 722-724
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
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- Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal featuresJournal of Human Genetics, 2018
- ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic featuresCold Spring Harbor Molecular Case Studies, 2017
- ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathyEuropean Heart Journal, 2016
- Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric CardiomyopathyJACC, 2016