Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
about
A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.TBX1 loss-of-function mutation contributes to congenital conotruncal defects.Targeted Next-Generation Sequencing in Patients with Non-syndromic Congenital Heart Disease.Molecular genetics of 22q11.2 deletion syndromeA loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplicationGenetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
P2860
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Novel TBX1 loss-of-function mu ...... ents without 22q11.2 deletion.
@ast
Novel TBX1 loss-of-function mu ...... ents without 22q11.2 deletion.
@en
type
label
Novel TBX1 loss-of-function mu ...... ents without 22q11.2 deletion.
@ast
Novel TBX1 loss-of-function mu ...... ents without 22q11.2 deletion.
@en
prefLabel
Novel TBX1 loss-of-function mu ...... ents without 22q11.2 deletion.
@ast
Novel TBX1 loss-of-function mu ...... ents without 22q11.2 deletion.
@en
P2093
P2860
P356
P1433
P1476
Novel TBX1 loss-of-function mu ...... ents without 22q11.2 deletion.
@en
P2093
Jian Zhang
Qian-Qian Guo
Shao-Hai Fang
Yue-Juan Xu
P2860
P2888
P356
10.1186/1471-2350-15-78
P577
2014-07-06T00:00:00Z
P5875
P6179
1024307034