Identification of mutation c. 632G > A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease

KIZ OpenIR > 科研部门 > 疾病机理遗传学和进化医学学科组（姚永刚）

	Identification of mutation c. 632G > A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease
	Lu FY 1,2; Xu L 2,3; Yin XG 2; Wan P 4; Zhang XD 2; Chen WW 2; Ding SP 2; Yao YG*2; ygyaozh@gmail.com
	2011
发表期刊	INTERNATIONAL JOURNAL OF DERMATOLOGY
卷号	50 期号:11 页码:1366-1370
合作性质	其它
摘要	Darier's disease (DD, MIM 124200) is an autosomal dominant inherited skin disease. Mutations in the ATP2A2 gene, which encoded the sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2), are responsible for this skin disorder. Here we report the clinical, genetic, and molecular characterization of a large Chinese family with DD. We identified mutation c. 632G> A (p. G211D) in the ATP2A2 gene in this family. Genotypephenotype correlation in available family members provided helpful genetic counseling information for mutation carriers.
资助者	This study was supported by Yunnan Province (2009CI119), Chinese Academy of Sciences, and the National Science Founda- tion of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Chinese Academy of Sciences, and the National Science Founda- tion of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Chinese Academy of Sciences, and the National Science Founda- tion of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Chinese Academy of Sciences, and the National Science Founda- tion of China (30925021).
收录类别	SCI
语种	英语
资助者	This study was supported by Yunnan Province (2009CI119), Chinese Academy of Sciences, and the National Science Founda- tion of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Chinese Academy of Sciences, and the National Science Founda- tion of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Chinese Academy of Sciences, and the National Science Founda- tion of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Chinese Academy of Sciences, and the National Science Founda- tion of China (30925021).
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/353002/6833
专题	科研部门_疾病机理遗传学和进化医学学科组（姚永刚）科研部门_动物模型与人类重大疾病机理重点实验室
通讯作者	ygyaozh@gmail.com
作者单位	1.Department of Dermatology, the First People’s Hospital of Qujing City, Qujing, Yunnan 2.Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 3.Graduate School of the Chinese Academy of Sciences, Beijing 4.Department of Dermatology, the First Affiliated Hospital of Kunming Medical College, Kunming, Yunnan, China
推荐引用方式 GB/T 7714	Lu FY,Xu L,Yin XG,et al. Identification of mutation c. 632G > A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease[J]. INTERNATIONAL JOURNAL OF DERMATOLOGY,2011,50(11):1366-1370.
APA	Lu FY.,Xu L.,Yin XG.,Wan P.,Zhang XD.,...&ygyaozh@gmail.com.(2011).Identification of mutation c. 632G > A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease.INTERNATIONAL JOURNAL OF DERMATOLOGY,50(11),1366-1370.
MLA	Lu FY,et al."Identification of mutation c. 632G > A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease".INTERNATIONAL JOURNAL OF DERMATOLOGY 50.11(2011):1366-1370.

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