A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL (vol 13, 943117, 2022)

被引：0

作者：

Li, Juyi ^{[1
]}

Luo, Tao ^{[2
]}

Wang, Xiufang ^{[3
]}

Wang, Mengjie ^{[4
]}

Zheng, Tao ^{[5
]}

Dang, Xiao ^{[6
]}

Deng, Aiping ^{[1
]}

Zhang, Youzhi ^{[7
]}

Ding, Sheng ^{[4
]}

Jing, Ping ^{[2
]}

Zhu, Lin ^{[8
]}

机构：

[1] Huazhong Univ Sci & Technol, Cent Hosp Wuhan, Tongji Med Coll, Dept Pharm, Wuhan, Hubei, Peoples R China

[2] Huazhong Univ Sci & Technol, Cent Hosp Wuhan, Tongji Med Coll, Dept Neurol, Wuhan, Hubei, Peoples R China

[3] Huazhong Univ Sci & Technol, Cent Hosp Wuhan, Tongji Med Coll, Dept Pain, Wuhan, Hubei, Peoples R China

[4] Huazhong Univ Sci & Technol, Cent Hosp Wuhan, Tongji Med Coll, Dept Endocrinol, Wuhan, Hubei, Peoples R China

[5] Hubei Univ Med, Taihe Hosp, Dept Pharm, Shiyan, Hubei, Peoples R China

[6] Guangzhou Med Univ, Dept Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou, Peoples R China

[7] Hubei Univ Sci & Technol, Sch Pharm, Xianning, Peoples R China

[8] Huazhong Univ Sci & Technol, Tongji Hosp, Dept Pediat, Wuhan, Hubei, Peoples R China

来源：

关键词：

CADASIL; whole-exome-sequencing; heterozygous; Notch3; treatment scheme;

D O I：

10.3389/fgene.2023.1273023

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：1