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
文献类型：期刊论文
| 作者 | Lu FY1,2; Xu L2,3; Yin XG2; Wan P4; Zhang XD2; Chen WW2; Ding SP2; Yao YG[*]2 |
| 刊名 | INTERNATIONAL JOURNAL OF DERMATOLOGY
 |
| 出版日期 | 2011 |
| 卷号 | 50期号:11页码:1366-1370 |
| 通讯作者 | ygyaozh@gmail.com |
| 合作状况 | 其它 |
| 英文摘要 | 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. |
| 收录类别 | SCI |
| 资助信息 | This study was supported by Yunnan Province (2009CI119), Chinese Academy of Sciences, and the National Science Founda- tion of China (30925021). |
| 语种 | 英语 |
| 公开日期 | 2011-12-12 |
| 源URL | [http://159.226.149.42:8088/handle/353002/6833]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 |
| 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.,...&Yao YG[*].(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. |
入库方式： OAI收割
来源：昆明动物研究所
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