Associated Papers
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: mmc1.pdf
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
Biorxiv : the Preprint Server for Biology, 2023
36798224 (PubMed )
Supplement: media-2.pdf
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
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Bustad HJ et al.
International Journal of Molecular Sciences, 2021
33445488 (PubMed )
Supplement: ijms-22-00675-s001.pdf
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
Chen B et al.
Human Mutation, 2016
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
Bustad HJ et al.
Bioscience Reports, 2013
Select a paper to view details