High-Throughput Reclassification of SCN5A Variants-Reference-Cited by-同舟云学术

High-Throughput Reclassification of SCN5A Variants

Published:2020-07 Issue:1 Volume:107 Page:111-123
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Glazer Andrew M.^ORCID,Wada Yuko,Li Bian,Muhammad Ayesha,Kalash Olivia R.,O’Neill Matthew J.,Shields Tiffany,Hall Lynn,Short Laura,Blair Marcia A.,Kroncke Brett M.,Capra John A.,Roden Dan M.^ORCID

Funder

NIH Shared Instrumentation Grant

NIH

American Heart Association

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference70 articles.

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3. Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy;Moreau;J. Gen. Physiol.,2015

4. Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system;Bezzina;Circ. Res.,2003

5. Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome;Gui;PLoS ONE,2010

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