| 1. | This article reviews the clinical manifestations , mutation feature , gene location and phenotype of different ischemic cerebrovascular disease caused by monogenic disorders , including coagulation disorders , erythrocytic disorders , inherited small vessel disease , metabolic disorders , connective tissue diseases , vasculopathies and disorders of unknown etiology 本文主要阐述了单基因遗传障碍引起的缺血性脑血管病,包括凝血障碍、血细胞病、遗传性小血管病、代谢障碍、结缔组织病、大动脉病及不明原因引起缺血性脑血管病的临床特征、突变特点、基因定位及表型等遗传学研究进展。 |