Article

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

2023-02-06

Abstract excerpt

Defects in hydroxymethylbilane synthase (HMBS) can cause Acute Intermittent Porphyria (AIP), an acute neurological disease. Although sequencing-based diagnosis can be definitive, ~⅓ of clinical HMBS variants are missense variants, and most clinically-reported HMBS missense variants are designated as “variants of uncertain significance” (VUS). Using saturation mutagenesis, en masse selection, and sequencing, we ap...

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Literature Corpus work: cd593b33-6a85-5135-a685-89600598d129
DOI: 10.1101/2023.02.06.527353

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