Associated Papers
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
Gene symbol: FECH. Disease: Porphyria, Erythropoietic.
Brancaleoni V et al.
Human Genetics, 2008
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
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
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
Gouya L et al.
Blood, 1999
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
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