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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
Publicado en:Front Pharmacol
Main Authors: Fu, Yibao, Jia, Jinmeng, Yue, Lishu, Yang, Ruiying, Guo, Yongli, Ni, Xin, Shi, Tieliu
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6753391/
https://ncbi.nlm.nih.gov/pubmed/31572191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphar.2019.01018
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