Article

Genetic Analysis and Prenatal Diagnosis of Acute Intermittent Porphyria Caused by Novel Classical Splicing Variant in the Insertion Region of 29-Residue Specific to Human HMBS Protein

2023-02-13

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Acute intermittent porphyria (AIP; OMIM#176000) is caused by mutations in the hydroxymethylbilane synthetase (<italic>HMBS</italic>) gene, which encodes the third enzyme of the heme biosynthesis pathway. A 29-residue insert (residues 296-324) exists at the interface between domains 1 and 3 of human <italic>HMBS</italic> (<italic>hHMBS</italic>), and its function...

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Literature Corpus work: b63f58c4-ad3f-5061-ac41-0f44e9f013ea
DOI: 10.21203/rs.3.rs-2431452/v1

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