Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria

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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Bibliographic Details
Main Authors: Yibao Fu, Jinmeng Jia, Lishu Yue, Ruiying Yang, Yongli Guo, Xin Ni, Tieliu Shi
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-09-01
Series:Frontiers in Pharmacology
Subjects:
acute intermittent porphyria
HMBS gene
genotype and phenotype relationship
hypergeometric test
variation ethnic distribution difference
PPARA gene
Online Access:https://www.frontiersin.org/article/10.3389/fphar.2019.01018/full

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https://www.frontiersin.org/article/10.3389/fphar.2019.01018/full

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