Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
about
Inherited long QT syndrome: clinical manifestation, genetic diagnostics, and therapy.KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.Relationship of common candidate gene variants to electrocardiographic T-wave peak to T-wave end interval and T-wave morphology parameters.Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.Influence of genetic modifiers on sudden cardiac death cases.Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs.
P2860
Q33161775-A9707236-0A2A-4A0E-AE78-0D5535BD587AQ33886242-8E5C2761-DBBC-4774-9F75-51CC49B60FEDQ33998438-A0656EAA-64A9-47FB-8A17-EA412F94EDFBQ34395488-2DD8E4A4-6DD3-4AE9-9669-FF854C96A6C2Q37187461-57976FDE-F90E-42D2-A074-6EEB6E0ABDEAQ37716328-1BA861B3-8DAE-49D1-9694-2A8C83EFBF34Q41930866-91AD78F5-6506-4C8F-BC89-F342363DDBD8Q48162713-88E26473-E499-456C-ACB9-343E3F988666Q51523616-FA54FF01-E718-44CC-B684-2E2B7A4BE34A
P2860
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
description
2008 nî lūn-bûn
@nan
2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Protective effect of KCNH2 sin ...... vel KCNQ1 and KCNH2 mutations.
@ast
Protective effect of KCNH2 sin ...... vel KCNQ1 and KCNH2 mutations.
@en
type
label
Protective effect of KCNH2 sin ...... vel KCNQ1 and KCNH2 mutations.
@ast
Protective effect of KCNH2 sin ...... vel KCNQ1 and KCNH2 mutations.
@en
prefLabel
Protective effect of KCNH2 sin ...... vel KCNQ1 and KCNH2 mutations.
@ast
Protective effect of KCNH2 sin ...... vel KCNQ1 and KCNH2 mutations.
@en
P2093
P2860
P356
P1433
P1476
Protective effect of KCNH2 sin ...... vel KCNQ1 and KCNH2 mutations.
@en
P2093
Carlos Oberti
G Michael Vincent
Qing K Wang
Randall M Bryant
Sharon Redfearn
Shenghan Chen
Xianqin Zhang
P2860
P2888
P356
10.1186/1471-2350-9-87
P577
2008-09-23T00:00:00Z
P5875
P6179
1000639188