| Siemens大疱性鱼鳞病基因突变国内首次报道 |
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| 引用本文： | 孙秀坤,关欣,朱学骏. Siemens大疱性鱼鳞病基因突变国内首次报道[J]. 临床皮肤科杂志, 2002, 31(10): 610-612 |
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| 作者姓名： | 孙秀坤 关欣 朱学骏 |
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| 作者单位： | 北京大学第一医院皮肤性病科,北京大学皮肤病与性病防治中心,北京,100034 |
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| 摘 要： | 为研究Siemens大疱性鱼鳞病患者基因突变情况，对1例Siemens大疱性鱼鳞病患者皮损进行组织病理及电镜观察，并采用聚合酶链反应及DNA直接测序方法，检测患者基因突变。结果发现该患者角蛋白2e(K2e)基因存在杂合点突变E493K。
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| 关 键 词： | Siemens大疱性鱼鳞病 角蛋白2e 基因突变 IBS |
| 文章编号： | 1000-4963(2002)10-0610-03 |
| 修稿时间： | 2002-02-27 |
First report of gene mutation in a Chinese patient with ichthyosis bullosa of Siemens |
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| SUN Xiu-kun,GUAN Xin,ZHU Xue-jun. First report of gene mutation in a Chinese patient with ichthyosis bullosa of Siemens[J]. Journal of Clinical Dermatology, 2002, 31(10): 610-612 |
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| Authors: | SUN Xiu-kun GUAN Xin ZHU Xue-jun |
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| Abstract: | To identify gene mutation of a patient with ichthyosis bullosa of Siemens,punch biopsies from typical lesion were exam-ined by light microscopy and transmission electron microscopy,and polymerase chain reaction(PCR)and DNA sequencing were employed to mutation detection.A single heterozygous point mutation E493K of keratin2e gene was found in the patient ,not in normal controls.This mutation causing ichthyosis bullosa of Siemens was reported in China for the first time. |
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| Keywords: | ichthyosis bullosa of Siemens keratin2e gene mutation |
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