Associated Papers
A case of erythrogenic protoporphyria with thyrotoxicosis and liver dysfunction in an adult female.
Li Q et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.
Li P et al.
Blood Advances, 2021
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Dickey AK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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 M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Erythropoietic Protoporphyria in a Japanese Population.
Mizawa M et al.
Acta Dermato-venereologica, 2019
Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report.
Liu HM et al.
World Journal of Gastroenterology, 2019
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.
Mirmiran A et al.
American Journal of Human Genetics, 2019
Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).
Brancaleoni V et al.
Molecular Genetics and Metabolism, 2018
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 MS et al.
Folia Biologica, 2015
Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.
Colombo FP et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Balwani M et al.
Molecular Medicine (cambridge, Mass.), 2013
The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria.
Tahara T et al.
International Journal of Hematology, 2010
DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population.
Lau KC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.
Li C et al.
Clinical Chemistry and Laboratory Medicine, 2009
Gene symbol: FECH. Disease: Porphyria, erythropoietic.
Brancaleoni V et al.
Human Genetics, 2008
Gene symbol: FECH. Disease: Porphyria, erythropoietic.
Brancaleoni V et al.
Human Genetics, 2008
Molecular characterization of erythropoietic protoporphyria in South Africa.
Parker M et al.
The British Journal of Dermatology, 2008
Gene symbol: FECH. Disease: Porphyria, Erythropoietic.
Brancaleoni V et al.
Human Genetics, 2008
A novel mutation of the FECH gene in a Chinese family with erythropoietic protoporphyria.
Zhou SN et al.
Journal of Dermatological Science, 2007
Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria.
Di Pierro E et al.
Clinical Genetics, 2007
A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria.
Di Pierro E et al.
Experimental Hematology, 2005
Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.
Onaga Y et al.
Biochemical and Biophysical Research Communications, 2004
A novel ferrochelatase gene mutation (IVS1-2 A-->C) in erythropoietic protoporphyria.
Lew W
The Journal of Investigative Dermatology, 2003
Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.
Schneider-Yin X et al.
The Journal of Investigative Dermatology, 2001
New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.
Rüfenacht UB et al.
Clinical Chemistry, 2001
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
Schneider-Yin X et al.
European Journal of Pediatrics, 2000
A 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyria.
Di Pierro E et al.
Blood Cells, Molecules & Diseases, 0
Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.
Parera VE et al.
Molecular Medicine (cambridge, Mass.), 0
Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.
Long ZB et al.
Journal of Zhejiang University. Science. B, 0