Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2
about
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.Angiotensin II Type 1 Receptor-Mediated Electrical Remodeling in Mouse Cardiac MyocytesWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.
P2860
Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Overlapping LQT1 and LQT2 phen ...... variations in KCNQ1 and KCNH2
@ast
Overlapping LQT1 and LQT2 phen ...... variations in KCNQ1 and KCNH2
@en
type
label
Overlapping LQT1 and LQT2 phen ...... variations in KCNQ1 and KCNH2
@ast
Overlapping LQT1 and LQT2 phen ...... variations in KCNQ1 and KCNH2
@en
prefLabel
Overlapping LQT1 and LQT2 phen ...... variations in KCNQ1 and KCNH2
@ast
Overlapping LQT1 and LQT2 phen ...... variations in KCNQ1 and KCNH2
@en
P2093
P2860
P50
P356
P1476
Overlapping LQT1 and LQT2 phen ...... variations in KCNQ1 and KCNH2
@en
P2093
Christian Veltmann
Elena Burashnikov
Jonathan M Cordeiro
Vladislav V Nesterenko
P2860
P304
P356
10.1139/Y10-094
P50
P577
2010-12-01T00:00:00Z