A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia (letter)

Aoki N; Ito K; Tachibana T; Ito M

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A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia (letter)

机译：X连锁无性外胚层发育不良的日本家庭中EDA1中的一种新型精氨酸->丝氨酸突变（字母）

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来源
《The Journal of investigative dermatology.》 |2000年第2期|共2页
作者
Aoki N; Ito K; Tachibana T; Ito M;
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原文格式 PDF
正文语种 eng
中图分类皮肤病学与性病学;
关键词
Ectodermal Dysplasia; Linkage Genetics; Membrane Proteins; Mongoloid Race; 外胚层发育不良; 膜蛋白质类; 蒙古人种; 突变; X染色体;

机译：Ectodermal Dysplasia;Linkage Genetics;Membrane Proteins;Mongoloid Race;外胚层发育不良;膜蛋白质类;蒙古人种;突变;X染色体;

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专利

1. A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia (letter) [J] . Aoki N, Ito K, Tachibana T, The Journal of investigative dermatology. . 2000,第2期

机译：X连锁无性外胚层发育不良的日本家庭中EDA1中的一种新型精氨酸->丝氨酸突变（字母）
2. Screening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian Patients [J] . Chiara Conte, Stefano Gambardella, Cristina Bulli, Genetic Testing . 2008,第3期

机译：使用DHPLC筛选X连锁无软骨细胞外胚层发育不良中的EDA1基因：在意大利患者中鉴定14种新突变
3. Screening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian Patients [J] . Chiara Conte Stefano Gambardella Cristina Bulli Fabrizio Rinaldi Daniele Di Marino Mattia Falconi Placido Bramanti Alessandro Desideri Giuseppe Novelli Genetic Testing . 2008,第3期

机译：使用DHPLC筛选X连锁无软骨细胞外胚层发育不良中的EDA1基因：在意大利患者中鉴定14种新突变
4. Mandibular dental implants in children with anhidrotic ectodermal dysplasia: a case report [C] . N. Escudero-Papot, G. Romieu, O. Romieu, European Society for Surgical Research . 2009

机译：儿童中颌骨植入物在anhidrotic encerodermal dysplasia：案例报告
5. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. [O] . A W Monreal, J Zonana, B Ferguson 1998

机译：鉴定新的EDA1基因剪接形式可检测到几乎所有X连锁的多汗性外胚层发育不良突变。
6. A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia [O] . Aoki Noriaki, Ito Kaoru, Tachibana Toshiaki, 2000

机译：X连锁无软骨细胞外胚层发育不良的日本家庭中的新型精氨酸→丝氨酸突变的EDA1。

A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia (letter)

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