详情页 - 昆明医科大学第一附属医院知识库

当前位置：首页 > 详情页

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

90| 导出 | 链接全文 |

文献详情

资源类型：

WOS体系：

Pubmed体系：

收录情况： ◇ SCIE

作者：

机构： [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

出处：

DOI：

ISSN：

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.

基金：

语种：

被引次数：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2012]版：

大类 | 4 区医学

小类 | 4 区皮肤病学

最新[2023]版：

大类 | 4 区医学

小类 | 3 区皮肤病学

JCR分区：

出版当年[2011]版：

Q3 DERMATOLOGY

最新[2023]版：

Q1 DERMATOLOGY

影响因子： 3.5 最新[2023版] 3.1 最新五年平均 1.142 出版当年[2011版] 1.391 出版当年五年平均 1.265 出版前一年[2010版] 1.342 出版后一年[2012版]

第一作者：

第一作者机构： [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,

共同第一作者：

通讯作者：

通讯机构： [*1]Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology Chinese Academy of Sciences, Kunming, Yunnan 650223 China

推荐引用方式(GB/T 7714)：

APA：

MLA：