title: A novel A(-4)-to-G acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria.
authors.forename: S
authors.initials: S
authors.lastname: Yotsumoto
authors.forename: S
authors.initials: S
authors.lastname: Shimada
authors.forename: K
authors.initials: K
authors.lastname: Terasaki
authors.forename: S
authors.initials: S
authors.lastname: Taketani
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: T
authors.initials: T
authors.lastname: Saheki
authors.forename: T
authors.initials: T
authors.lastname: Kanzaki
mesh_terms: D000328:Adult; D005294:Ferrochelatase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017121:Porphyria, Hepatoerythropoietic / Q000201:enzymology / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D022821:RNA Splice Sites; D012333:RNA, Messenger; D005294:Ferrochelatase