ASIA unversity:Item 310904400/6680
English  |  正體中文  |  简体中文  |  全文笔数/总笔数 : 90120/105277 (86%)
造访人次 : 8144014      在线人数 : 1816
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
搜寻范围 查询小技巧:
  • 您可在西文检索词汇前后加上"双引号",以获取较精准的检索结果
  • 若欲以作者姓名搜寻,建议至进阶搜寻限定作者字段,可获得较完整数据
  • 进阶搜寻
    ASIA unversity > 醫學暨健康學院 > 期刊論文 >  Item 310904400/6680


    jsp.display-item.identifier=請使用永久網址來引用或連結此文件: http://asiair.asia.edu.tw/ir/handle/310904400/6680


    题名: Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation
    作者: Wei-De Lin;Wu,Jer-Yuarn;Tsai,Fuu-Jen;Lee,Chun-Cheng;Chang-Hai Tsai
    日期: 2001-12
    上传时间: 2009-12-23 14:21:30 (UTC+8)
    出版者: Asia University
    摘要: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia. Two related genes, endoglin and activin receptor-like kinase (ALK-1), have been mapped to chromosomes 9q34 and 12q13, respectively. We describe a Taiwanese HHT family with hepatic arteriovenous malformation. Clinical and molecular evaluations were performed in eight members of this family, and HHT symptoms were found in three adults. Short tandem repeat markers were used to perform linkage analysis, and this family was classified as HHT type 2 (ALK-1 gene). The exons of ALK-1 were amplified using the polymerase chain reaction and subjected to direct DNA sequencing. The mutation causing the disease was located at ALK-1 codon 411, causing an arginine to glutamine substitution. Five members of this family carried the mutated ALK-1 gene. This investigation successfully used linkage and sequencing techniques to perform molecular diagnosis of HHT.
    關聯: JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION 100 (12): 817-819
    显示于类别:[醫學暨健康學院] 期刊論文

    文件中的档案:

    档案 大小格式浏览次数
    0KbUnknown285检视/开启


    在ASIAIR中所有的数据项都受到原著作权保护.


    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - 回馈