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

[1] A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease
Jia Huo
Yan Liu
Junhong Ma
Shengxiang Xiao
Archives of Dermatological Research, 2010, 302 : 769 - 772
[2] A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease
Huo, Jia
Liu, Yan
Ma, Junhong
Xiao, Shengxiang
ARCHIVES OF DERMATOLOGICAL RESEARCH, 2010, 302 (10) : 769 - 772
[3] Sporadic case of Darier disease caused by a novel splice-site mutation in the ATP2A2 gene
Yasuno, S.
Miyoshi, Y.
Asano, N.
Okita, T.
Yamaguchi, M.
Shimomura, N.
Kashiwagi, K.
Shimomura, Y.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2019, 44 (02) : E10 - E12
[4] Novel splice-site and frameshift ATP2A2 mutations in Chinese patients with Darier disease
Shi, H. J.
Li, M.
Zhang, G. L.
Xu, S. X.
Shao, M. H.
Gu, Y.
Du, X. F.
Mu, H. J.
Xie, P.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2012, 37 (06) : 677 - 679
[5] A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease
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Romano, Corrado
Cali, Francesco
Ruggeri, Giuseppa
Siragusa, Maddalena
Greco, Donatella
Romano, Valentino
Schepis, Carmelo
GIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA, 2016, 151 (05): : 582 - 585
[6] Severe Darier's disease patient with mutation of ATP2A2
Li, Cheng-Rang
Zhang, Yu
Jia, Wei-Xue
Xiao, Xue-Min
Gu, Ning-Yan
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Mao, Qiu-Xia
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POSTEPY DERMATOLOGII I ALERGOLOGII, 2014, 31 (05): : 338 - 340
[7] Novel ATP2A2 mutation in a patient with Darier's disease
Yoneda, Kozo
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JOURNAL OF DERMATOLOGY, 2014, 41 (04): : 349 - 350
[8] A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier's disease
Yang, S
Sun, LD
Liu, HS
Wang, JY
He, PP
Li, M
Gao, M
Liu, JB
Yang, J
Wang, ZX
Zhu, YY
Lin, D
Zhang, XJ
ARCHIVES OF DERMATOLOGICAL RESEARCH, 2004, 296 (01) : 21 - 24
[9] A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier’s disease
Sen Yang
Liang-Dan Sun
Hong-Sheng Liu
Ji-Yun Wang
Ping-Ping He
Ming Li
Min Gao
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Jie Yang
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Da Lin
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Archives of Dermatological Research, 2004, 296 : 21 - 24
[10] A novel missense mutation of ATP2A2 gene in a Chinese family with Darier disease
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INTERNATIONAL JOURNAL OF DERMATOLOGY, 2014, 53 (03) : E204 - E205

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