Associated Papers
Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.
Xiong H et al.
Orphanet Journal of Rare Diseases, 2025
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Weiss Y et al.
Molecular Genetics and Metabolism, 2019
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