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Recent advances in the epidemiology and genetics of acute intermittent porphyria

13 Aug 2020

Abstract excerpt

Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, and particularly to the evaluation of new treatments. Variations in the prevalence and penetrance of AIP in various...

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PMID: 33139978
DOI: 10.5582/irdr.2020.03082

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