Article
Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.
Clinical genetics - 1 Jan 2022
Hu Yuanxiang, Li Weihao, Kang Ninglin, Ma Liyan, Teng Qing, Mo Guiling, Wu Jiahong, Wang Xinyang, Bi Renjie, Zhang Songyun
Abstract excerpt
A partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (HMBS) leads to acute intermittent porphyria (AIP), a severe neurovisceral, autosomal dominant disorder with low penetrance. Even though in-depth investigations of the HMBS variants have been carried out by researchers in Britain, France, Russia, and Sweden, this area remains uninvestigated in China owing to the rarity and lack of...
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