Phenotypic and genetic characterization of novel variant in the NF1 gene underlying neurofibromatosis type 1 in five Chinese families

被引：1
|
作者：
Habulieti, Xiaerbati [1 ,2 ]
Sun, Liwei [1 ]
Liu, Jiawei [3 ]
Guo, Kexin [1 ]
Yang, Xueting [1 ]
Wang, Rongrong [1 ]
Ma, Donglai [3 ]
Zhang, Xue [1 ]
机构：
[1] Chinese Acad Med Sci, Peking Union Med Coll, Sch Basic Med,Inst Basic Med Sci, McKusick Zhang Ctr Genet Med,State Key Lab Med Me, Beijing 100005, Peoples R China
[2] XinJiang Med Univ, Affiliated Hosp 1, Urumqi 830001, Peoples R China
[3] Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Dermatol, Beijing 100072, Peoples R China
来源：
SCIENCE CHINA-LIFE SCIENCES | 2021年 / 64卷 / 12期
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1007/s11427-020-1922-3
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
引用
收藏
页码：2206 / 2209
页数：4
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