Associated Papers
Acute intermittent porphyria: a disease with low penetrance and high heterogeneity.
Lei JJ et al.
Frontiers in Genetics, 2024
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
Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
Morán-Jiménez MJ et al.
Genes, 2020
Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
Goncharova M et al.
Clinical Genetics, 2019
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
31572191 (PubMed )
Supplement: Table_3.xlsx › Sheet1
Acute intermittent porphyria in Argentina: an update.
Cerbino GN et al.
Biomed Research International, 2015
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Dragneva S et al.
Jimd Reports, 2014
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis.
Ulbrichova-Douderova D et al.
Analytical Biochemistry, 2009
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