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High frequency of the PPOX p.Arg168His pathogenic variant among Brazilian patients with variegate porphyria

Michelle Abdo Paiva1, Anna Paula Paranhos Miranda Covaleski2, Thiago Oliveira Silva3

  • 1Department of Neurology, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.

Molecular Genetics and Metabolism
|August 7, 2026
PubMed
Abstract

Keywords:
Acute hepatic porphyriasAcute porphyriasVariegate porphyria

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