A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier's disease

被引：4

作者：

Zhang, Guo-long ^{[1
]}

Li, Ming ^{[2
]}

Du, Xu-feng ^{[1
]}

Shi, He-jian ^{[1
]}

Shao, Min-hua ^{[1
]}

Mu, Hui-jun ^{[3
]}

Gu, Yong ^{[1
]}

Yang, Shu-dong ^{[4
]}

机构：

[1] Nanjing Med Univ, Affiliated Wuxi Peoples Hosp, Dept Dermatol, Wuxi, Peoples R China

[2] Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Dermatol, Shanghai 200030, Peoples R China

[3] Nanjing Med Univ, Affiliated Wuxi Peoples Hosp, Dept Cent Lab, Wuxi, Peoples R China

[4] Nanjing Med Univ, Affiliated Wuxi Peoples Hosp, Dept Pathol, Wuxi, Peoples R China

来源：

JOURNAL OF DERMATOLOGICAL SCIENCE | 2011年 / 64卷 / 01期

关键词：

PHENOTYPES; FAMILIES; SPECTRUM;

D O I：

10.1016/j.jdermsci.2011.06.014

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：72 / 75

页数：4

共 37 条

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