Article

Identification and molecular analysis of 17 novel hydroxymethylbilane synthase mutations in 69 Chinese patients with acute intermittent porphyria

2021-02-18

Abstract excerpt

<title>Abstract</title> <p>BACKGROUND: Acute intermittent porphyria (AIP) is an autosomal dominant hereditary disease caused by mutations to the hydroxymethylbilane synthase (<italic>HMBS</italic>) gene in the heme biosynthesis pathway. AIP is a rare disease that is thought to display incomplete penetrance. Studies on the characteristics of <italic>HMBS</italic> mutations in people from Britain, France, Russia, a...

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Literature Corpus work: fea4610d-ae6d-5233-a4b7-0662f80765c1
DOI: 10.21203/rs.3.rs-183801/v1

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