Endocrine Abstracts

BackgroundThe reported HMBS mutations of acute intermittent porphyria(AIP) have been increasing gradually in China. We aim to explore its mutation characteristic in China and improve the understanding of its molecular heterogeneity.Material/methodsWe searched the literature about Chinese AIP patients with HMBS mutation in the PubMed, CNKI, Wanfang and CQVIP database, and 3 AIP patients with HMBS mutation in o...