Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report
Author:
Publisher
Baishideng Publishing Group Inc.
Subject
General Medicine
Reference23 articles.
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1. A rare cause for seizures in an adult male – First report of a rare mutation in HMBS gene (c.730_731del) from India;IP Indian Journal of Neurosciences;2024-04-15
2. Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient;Frontiers in Genetics;2023-12-19
3. Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review;Frontiers in Genetics;2023-12-11
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