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Article

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2021

Cho Sun Young, Lau Eunice Yuen-Ting, Luk David Chi-Kong, Law Chun-Yiu, Lai Chi-Kong, Lam Ching-Wan

Abstract excerpt

INTRODUCTION: Variegate porphyria (VP; OMIM 176200) is one of the acute hepatic porphyrias, and it is characterized by the partial deficiency of protoporphyrinogen oxidase (PPOX). The unusual homozygous variant with mutations on both alleles of PPOX is distinguished with general heterozygous VP by several typical points such as severe defect in PPOX enzyme activity, early onset of photosensitivity before puberty,...

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PMID: 33159949
DOI: 10.1016/j.cca.2020.10.033

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