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
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
Lichen sclerosus et atrophicus-like skin lesions in a patient carrying a novel hydroxymethylbilane synthase mutation.
Douderova D et al.
Blood Cells, Molecules & Diseases, 2010
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