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: mmc3.xlsx › Supplemental_Table_S8
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
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