Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.

about

Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.

Item

http://www.wikidata.org/entity/Q50314021

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Identification of KCNQ1 compou ...... ll and Lange-Nielsen Syndrome.

@en

Identification of KCNQ1 compou ...... ll and Lange-Nielsen Syndrome.

@nl

type

Item

label

Identification of KCNQ1 compou ...... ll and Lange-Nielsen Syndrome.

@en

Identification of KCNQ1 compou ...... ll and Lange-Nielsen Syndrome.

@nl

prefLabel

Identification of KCNQ1 compou ...... ll and Lange-Nielsen Syndrome.

@en

Identification of KCNQ1 compou ...... ll and Lange-Nielsen Syndrome.

@nl

P1476

Identification of KCNQ1 compou ...... ll and Lange-Nielsen Syndrome.

@en

P2093

Cuicui Wang

http://www.w3.org/2001/XMLSchema#string

Di Zhang

http://www.w3.org/2001/XMLSchema#string

Dongyi Han

http://www.w3.org/2001/XMLSchema#string

Hong Duan

http://www.w3.org/2001/XMLSchema#string

Huijun Yuan

http://www.w3.org/2001/XMLSchema#string

Jing Cheng

http://www.w3.org/2001/XMLSchema#string

Lei Zhang

http://www.w3.org/2001/XMLSchema#string

Wei Liu

http://www.w3.org/2001/XMLSchema#string

Weihua Peng

http://www.w3.org/2001/XMLSchema#string

Yu Lu

http://www.w3.org/2001/XMLSchema#string

P2860

Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.

High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.

Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family.

Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.

The surdo-cardiac syndrome and therapeutic observations.

P304

522-528

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1080/00016489.2016.1260156

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

137

http://www.w3.org/2001/XMLSchema#string

P577

2016-12-05T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27917693

http://www.w3.org/2001/XMLSchema#string