Erythropoietic Protoporphyria
What's New
Last Posted: Jul 10, 2024
- When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion.
Sara Rovaris, et al. Dermatology reports 2024 0 (2) 9784 - Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria.
Gou Eric, et al. The journal of applied laboratory medicine 2021 0 (2) 213-221 - Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).
Brancaleoni Valentina, et al. Molecular genetics and metabolism 2018 0 (4) 287-296 - Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Dickey Amy K, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 0 (1) 140-148 - ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell Colin P, et al. Blood advances 2021 0 (3) 760-766 - Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Lefever Stefanie et al. Journal of inherited metabolic disease 2022 - Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria.
Alagappan Uma, et al. International journal of dermatology 2017 3 (3) 272-276 - Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism.
Chiara Matteo, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 7 - Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
Chami Nathalie, et al. American journal of human genetics 2016 6 - A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
Farrag M S, et al. Folia biologica 2015 0 (6) 227-32 - Erythropoietic protoporphyria
From NCATS Genetic and Rare Diseases Information Center - Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
Gouya Laurent, et al. American journal of human genetics 2006 1 (1) 2-14
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- Page last reviewed:Feb 1, 2024
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