摘要
急性间歇性卟啉病(AIP)是由羟甲基胆素合成酶(HMBS)基因突变所致的常染色体显性遗传病。目前已发现HMBS基因的300多种突变类型,这些突变类型存在家族独特性和遗传多样性。对AIP患者及其家系中携带突变基因的潜在发病者进行HMBS基因诊断可以积极有效的预防AIP的发生。
出处
《中国实用医药》
2016年第21期278-279,共2页
China Practical Medicine
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