Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review

Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review

Background: Early detection and diagnosis are important crucial to prevent life-threatening acute attacks in patients with acute intermittent porphyria (AIP). We aim to provide comprehensive data on the clinical and hydroxymethylbilane synthase (HMBS) gene variant characteristics and genotype-phenot...

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Bibliographic Details
Main Authors:	Yi Ren, Shuang Li, Jia-Jia Lei, Ru Li, Bai-Xue Dong, Jing Yang
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-12-01
Series:	Frontiers in Genetics
Subjects:	acute intermittent porphyria hydroxymethylbilane synthase China mutation analysis abdominal pain
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1291719/full

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