HJ Bustad, K Toska, C Schmitt, M Vorland, L Skjærven… - Molecular Therapy, 2020 - Elsevier
Mutations in hydroxymethylbilane synthase (HMBS) cause acute intermittent porphyria (AIP),
an autosomal dominant disease where typically only one HMBS allele is mutated. In AIP, the …