|本期目录/Table of Contents|

[1]王珊珊,王天明,叶显撑,等.特发性肺动脉高压相关SOX17基因新突变分析[J].国际心血管病杂志,2021,04:241-246.
　WANG Shanshan,WANG Tianming,YE Xiancheng,et al.Novel mutations of SOX17 gene in patients with idiopathic pulmonary arterial hypertension[J].International Journal of Cardiovascular Disease,2021,04:241-246.
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特发性肺动脉高压相关SOX17基因新突变分析(PDF)

《国际心血管病杂志》[ISSN:1006-6977/CN:61-1281/TN]

期数:
2021年04期
页码:
241-246
栏目:
临床研究
出版日期:
2021-08-15

文章信息/Info

Title:
Novel mutations of SOX17 gene in patients with idiopathic pulmonary arterial hypertension
作者:
王珊珊; 王天明; 叶显撑; 刘兴元
201204 上海,同济大学附属第一妇婴保健院新生儿科(王珊珊); 200065 上海,同济大学附属同济医院儿科(王天明、刘兴元),药剂科(叶显撑)
Author(s):
WANG Shanshan1;  WANG Tianming2;  YE Xiancheng3;  LIU Xingyuan2
1. Department of Neonatal Pediatrics, First Maternity and Infant Hospital, Tongji University, Shanghai 201204; 2. Department of Pediatrics, Tongji Hospital, Tongji University, Shanghai 200065; 3. Department of Pharmacy, Tongji Hospital, Tongji University,
关键词:
肺动脉高压;  分子遗传学;  转录因子;  SOX17;  基因突变
Keywords:
Pulmonary arterial hypertension;  Molecular genetics;  Transcriptional factor;  SOX17;  Genetic mutation
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2021.04.013
文献标识码:
-
摘要:
目的:寻找特发性肺动脉高压相关SOX17基因新突变。方法:收集58例特发性肺动脉高压患儿和200名健康对照者的临床资料及血标本,纯化基因组DNA。测序分析研究对象的SOX17基因以发现致特发性肺动脉高压突变。利用在线计算机程序分析突变氨基酸在物种进化上的保守性及其致病性。结果:在2例特发性肺动脉高压患儿中各发现1种SOX17基因新突变,分别为c.232T>A 和c.281A>T突变,即p.Trp78Arg和p.His94Leu突变。该突变不存在于200
Abstract:
1. Department of Neonatal Pediatrics, First Maternity and Infant Hospital, Tongji University, Shanghai 201204; 2. Department of Pediatrics, Tongji Hospital, Tongji University, Shanghai 200065; 3. Department of Pharmacy, Tongji Hospital, Tongji University,

参考文献/References

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备注/Memo

备注/Memo:
基金项目:上海市自然科学基金(16ZR1432500)
通信作者:刘兴元,E-mail:liuxingyuan402@163.com
更新日期/Last Update: 2021-08-15