A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
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Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient;Frontiers in Genetics;2023-12-19
2. Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report;World Journal of Clinical Cases;2022-11-26
3. Acute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China;Annals of Translational Medicine;2022-05
4. Recent advances in the epidemiology and genetics of acute intermittent porphyria;Intractable & Rare Diseases Research;2020-10-31
5. Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations;Intractable & Rare Diseases Research;2020-10-31
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