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: mmc2.xlsx › Enz._Activity_
Acute intermittent porphyria in Argentina: an update.
Cerbino GN et al.
Biomed Research International, 2015
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
De Siervi A et al.
Human Mutation, 2000
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