Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

导出 OA

翻译打印收藏纠错

第一作者： Jaël S,Copier

第一单位： Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.

作者： Jaël S,Copier ^[1] ; Marianne,Bootsma ^[2] ; Chai A,Ng ^[3] ; Arthur A M,Wilde ^[4] ; Robin A,Bertels ^[5] ; Hennie,Bikker ^[6] ; Imke,Christiaans ^[1] ; Saskia N,van der Crabben ^[2] ; Janna A,Hol ^[3] ; Tamara T,Koopmann ^[7] ; Jeroen,Knijnenburg ^[3] ; Aafke A J,Lommerse ^[8] ; Jasper J,van der Smagt ^[9] ; Connie R,Bezzina ^[8] ; Jamie I,Vandenberg ^[10] ; Arie O,Verkerk ^[11] ; Daniela Q C M,Barge-Schaapveld ^[11] ; Elisabeth M,Lodder ^[4]

作者单位： Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. ^[1] Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands. ^[2] European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'. ^[3] Department of Cardiology, Leiden University Medical Center, Albinusdreef 2, 2300 Leiden, The Netherlands. ^[4] Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia. ^[5] School of Clinical Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia. ^[6] Department of Paediatric Cardiology, Leiden University Medical Center, Willem-Alexander Children's Hospital, Albinusdreef 2, 2333 Leiden, Netherlands. ^[7] Human Genetics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. ^[8] Department of Clinical Genetics, University Medical Centre Groningen, 9713GZ Groningen, The Netherlands. ^[9] Erasmus MC, Clinical Genetics, Doctor Molewaterplein 40, 3015 Rotterdam, The Netherlands. ^[10] Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 Leiden, The Netherlands. ^[11] Clinical Genetics, University Medical Center Utrecht, Lundlaan 6, Utrecht, The Netherlands. ^[12] Medical Biology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. ^[13]

主题词人类(Humans);QT延长综合征(Long QT Syndrome);快速延迟整流钾通道(Ether-A-Go-Go Potassium Channels);HEK293细胞(HEK293 Cells);外显率(Penetrance);心脏(Heart)

DOI 10.1093/hmg/ddac261

PMID 36269083

发布时间 2023-03-30

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交