title: Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria.
authors.affiliation: Department of Medical Genetics, Queen's University of Belfast, UK.
authors.forename: D J
authors.initials: DJ
authors.lastname: Todd
authors.forename: A E
authors.initials: AE
authors.lastname: Hughes
authors.forename: K T
authors.initials: KT
authors.lastname: Ennis
authors.forename: A J
authors.initials: AJ
authors.lastname: Ward
authors.forename: D
authors.initials: D
authors.lastname: Burrows
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
mesh_terms: D001483:Base Sequence; D002648:Child; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D005294:Ferrochelatase / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D017092:Porphyria, Erythropoietic / Q000201:enzymology* / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D018076:DNA, Complementary; D005294:Ferrochelatase