Four novel RECQL4 mutations in four Chinese patients with Rothmund-Thomson syndrome and analysis of RECQL4 mRNA expression level in one typical patient

被引：4
|
作者：
Wang, Tingmei [1 ]
Chen, Luzhu [1 ,2 ]
She, Qiuyun [1 ]
Dong, Yingying [1 ]
Deng, Yunhua [1 ]
机构：
[1] Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Dermatol, Wuhan 430030, Hubei, Peoples R China
[2] Hubei Prov Hosp Tradit Chinese Med, Dept Med Cosmetol, Wuhan 430061, Hubei, Peoples R China
来源：
JOURNAL OF DERMATOLOGICAL SCIENCE | 2018年 / 91卷 / 03期
基金：
中国国家自然科学基金;
关键词：
BALLER-GEROLD-SYNDROME; GENE; ASSOCIATION; PHENOTYPE;
D O I：
10.1016/j.jdermsci.2018.06.005
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：335 / 337
页数：3
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