Associated Papers
The diagnosis of acute intermittent porphyria combined with seizures: Case report.
Wang Z et al.
Medicine, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 2023
37729906 (PubMed )
Supplement: mmc3.xlsx › Supplemental_Table_S8
Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function.
Christie MS et al.
Febs Open Bio, 2022
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Barman-Aksözen J et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2019
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
31572191 (PubMed )
Supplement: Table_2.xlsx › HMBS.vcf.hg19_multianno
Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.
Méndez M et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
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