摘要
Fabry病（Anderson-Fabry disease，AFD）为X连锁不完全性显性遗传病。患者X染色体上的GLA基因突变，造成其蛋白质产物酸性α半乳糖苷酶A活性缺乏。Fabry病根据其临床症状可分为典型和非典型两类。有研究报道典型性Fabry病在全体人群中的发病率为四万分之一，在男性中的发病率约为五万分之一。
出处
《中华心血管病杂志》
CAS
CSCD
北大核心
2010年第9期856-858,共3页
Chinese Journal of Cardiology
基金
国家自然科学基金（30800611）
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同被引文献5
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