title: Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene.
authors.affiliation: Third Department of Internal Medicine, Kansai Medical University, Osaka, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Nakahashi
authors.forename: H
authors.initials: H
authors.lastname: Miyazaki
authors.forename: Y
authors.initials: Y
authors.lastname: Kadota
authors.forename: Y
authors.initials: Y
authors.lastname: Naitoh
authors.forename: K
authors.initials: K
authors.lastname: Inoue
authors.forename: M
authors.initials: M
authors.lastname: Yamamoto
authors.forename: N
authors.initials: N
authors.lastname: Hayashi
authors.forename: S
authors.initials: S
authors.lastname: Taketani
mesh_terms: D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D005294:Ferrochelatase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D017121:Porphyria, Hepatoerythropoietic / Q000201:enzymology / Q000235:genetics*; D046351:Protoporphyria, Erythropoietic; D012326:RNA Splicing / Q000235:genetics
chemical_list: D004247:DNA; D005294:Ferrochelatase