[具有遗传性纤维素缺乏症的两个血统的表型和基因型分析]

K Q Jia1, Z X Su1, H L Chen1

  • 1Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.

概括

这项研究确定了两种新的异质合变异突变,p.BβAla98Asp和p.BβSer473*,导致纤维素缺乏. 这些遗传变异分别导致纤维蛋白缺血和纤维蛋白缺血,影响血液凝固.