Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.
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| Title: | Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia. |
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| Authors: | Pham C; Department of Experimental Cardiology Heart Center, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart failure & Arrhythmias, Amsterdam, The Netherlands., Koopmann TT; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Physiology and Experimental Medicine, The Hospital for Sick Children & Research Institute, Toronto, Canada., Vinocur JM; Division of Pediatric Cardiology, Yale University School of Medicine, New Haven, Connecticut, USA., Blom NA; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., Nogueira Silbiger V; Physiology and Experimental Medicine, The Hospital for Sick Children & Research Institute, Toronto, Canada.; Department of Clinical and Toxicological Analysis, Federal University of Rio Grande do Norte, Natal, Brazil., Mittal K; Department of Translational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Bootsma M; Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands., Palm KCA; Department of Experimental Cardiology Heart Center, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart failure & Arrhythmias, Amsterdam, The Netherlands., Clur SB; Department of Paediatric Cardiology, Emma Children's Hospital, University Medical Center Amsterdam, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart - ERN GUARD-Heart, Amsterdam, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hamilton RM; Labatt Family Heart Centre, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada., Lodder EM; Department of Experimental Cardiology Heart Center, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart failure & Arrhythmias, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands. |
| Source: | Clinical genetics [Clin Genet] 2024 Jul; Vol. 106 (1), pp. 37-46. Date of Electronic Publication: 2024 Feb 29. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14504 |
