%0 Journal Article %T 一个遗传性出血性毛细血管扩张症家系的临床和基因诊断<br>Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family %A 易彦 %A 刘小凤 %A 吴博达 %A 刘军 %A 葛圣雷 %A 施小六< %A br> %A YI Yan %A LIU Xiaofeng %A WU Boda %A LIU Jun %A GE Shenglei %A SHI Xiaoliu %J 中南大学学报(医学版) %D 2017 %R 10.11817/j.issn.1672-7347.2017.09.004 %K 遗传性出血性毛细血管扩张症 %K 临床诊断 %K 基因诊断 %K endoglin %K 致病性变异 %K < %K br> %K hereditary hemorrhagic telangiectasia %K clinical diagnosis %K genetic diagnosis %K endoglin %K pathogenic variant %U http://xbyxb.csu.edu.cn/xbwk/CN/abstract/abstract3976.shtml