Article

Novel PPOX mutations in two variegate porphyria pedigrees

2023-09-12

Abstract excerpt

<h4>Objective: </h4> Variegate porphyria (VP) is an autosomal dominant inherited disease caused by mutation of the PPOX gene and impacted activity of the protoporphyrinogen oxidase (PPOX). We report two pedigrees of young women who present VP-related manifestation such as blistering, flushing, scarring, and hyperpigmentation after sunlight exposure. The genetic analysis of PPOX gene was performed. Methods Whole e...

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Literature Corpus work: bf5330d9-e177-5eac-a105-601bbc76e7b3
DOI: 10.21203/rs.3.rs-3330892/v1

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