Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria

Abstract

Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria

Keywords

• acute intermittent porphyria
• hydroxymethylbilane porphyha synthase
• missense mutation
• in vitro expression