Condition: PROTOPORPHYRIA, ERYTHROPOIETIC, 1


rs118204037 in FECH gene and PROTOPORPHYRIA, ERYTHROPOIETIC, 1 PMID 11375302 2001 New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.

PMID 10942404 2000 Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

PMID 1755842 1991 Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.

PMID 8757534 1996 A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria.

PMID 9585598 1998 Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

PMID 1376018 1992 A molecular defect in human protoporphyria.

PMID 9740232 1998 Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

PMID 7910885 1994 Recessive inheritance of erythropoietic protoporphyria with liver failure.

PMID 17196862 2007 Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.

PMID 9211198 1997 Erythropoietic protoporphyria.

PMID 12601550 2003 Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.

PMID 12063482 2002 Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.

PMID 15286165 2004 Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease.

PMID 18787536 2009 Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.

PMID 16385445 2006 Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

PMID 23364466 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.

PMID 28093505 2017 Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.

PMID 19298273 2009 A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.