Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria

The rare autosomal dominant disorder acute intermittent porphyria (AIP) is caused by the deficient activity of hydroxymethylbilane synthase (HMBS). The symptoms of AIP are acute neurovisceral attacks which are induced by the dysfunction of heme biosynthesis. To better interpret the underlying mechan...

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Detalles Bibliográficos
Autores principales: Fu, Yibao, Jia, Jinmeng, Yue, Lishu, Yang, Ruiying, Guo, Yongli, Ni, Xin, Shi, Tieliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6753391/
https://www.ncbi.nlm.nih.gov/pubmed/31572191
http://dx.doi.org/10.3389/fphar.2019.01018

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