New KCNQ1 c.604 + 1G >C variant associated with Jervell-Lange Nielsen syndrome in homozygosity and compound heterozygosity-Reference-Cited by-同舟云学术

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New KCNQ1 c.604 + 1G >C variant associated with Jervell-Lange Nielsen syndrome in homozygosity and compound heterozygosity

Published:2022-06 Issue:6 Volume:75 Page:529-531
ISSN:1885-5857
Container-title:Revista Española de Cardiología (English Edition)
language:en
Short-container-title:Revista Española de Cardiología (English Edition)

Author:

Arana-Rueda Eduardo,Pezzotti Maria-Rosa,Pedrote Alonso,Marcos-Fuentes Laura,Frutos-López Manuel,Castellano Antonio

Publisher

Elsevier BV

Subject

General Medicine

Reference5 articles.

1. Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome;Goldenberg;J Cardiovasc Electrophysiol.,2006

2. Protocolo de actuación en las cardiopatías familiares: síntesis de recomendaciones y algoritmos de actuación;Barriales-Villa;Rev Esp Cardiol.,2016

3. The mutational spectrum of single base pair substitutions in mRNA splice junctions of human genes: causes and consequences;Krawczak;Hum Genet.,1992

4. The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction;Wiener;J Biol Chem.,2008

5. Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes;Giudicessi;Transl Res.,2013

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