Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report

BACKGROUND: Acute intermittent porphyria (AIP) is a rare autosomal dominant porphyrin metabolic disease caused by a mutation in the hydroxymethylbilane synthase (HMBS) gene. This study aimed to explore the clinical manifestations of a patient with AIP, to identify a novel HMBS gene mutation in the p...

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Detalles Bibliográficos
Autores principales: Zhou, Yu-Qing, Wang, Xiao-Qing, Jiang, Jun, Huang, Shu-Ling, Dai, Zhuo-Jin, Kong, Qiao-Qiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724524/
https://www.ncbi.nlm.nih.gov/pubmed/36483813
http://dx.doi.org/10.12998/wjcc.v10.i33.12319

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724524/
https://www.ncbi.nlm.nih.gov/pubmed/36483813
http://dx.doi.org/10.12998/wjcc.v10.i33.12319

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