Associated Papers
A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.
Merati M et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
40485347 (PubMed )
Supplement: LIV-45-0-s001.xlsx › Supplemental_Table3
Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene.
Ren Y et al.
Frontiers in Genetics, 2023
Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.
Wang X et al.
Frontiers in Genetics, 2023
38192441 (PubMed )
Supplement: Table1.XLSX › Sheet2
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
Chen B et al.
Journal of Inherited Metabolic Disease, 2019
Acute intermittent porphyria in Argentina: an update.
Cerbino GN et al.
Biomed Research International, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
Kauppinen R et al.
Clinical Chemistry, 2002
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
Martinez di Montemuros F et al.
Human Mutation, 2000
Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy.
Martinez di Montemuros F et al.
Blood Cells, Molecules & Diseases, 0
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