title: Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population.
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.forename: Aoi
authors.initials: A
authors.lastname: Nakano
authors.forename: Yuka
authors.initials: Y
authors.lastname: Toyomaki
authors.forename: Shigeki
authors.initials: S
authors.lastname: Ohashi
authors.forename: Ken
authors.initials: K
authors.lastname: Harada
authors.forename: Ryuta
authors.initials: R
authors.lastname: Moritsugu
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Takeda
authors.forename: Akira
authors.initials: A
authors.lastname: Kawada
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Mitsuhashi
authors.forename: Katsumi
authors.initials: K
authors.lastname: Hanada
mesh_terms: D044466:Asian People / Q000235:genetics*; D003596:Cytosine; D004274:DNA, Recombinant; D005294:Ferrochelatase / Q000235:genetics*; D006801:Humans; D007438:Introns; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D046351:Protoporphyria, Erythropoietic; D013941:Thymine
chemical_list: D004274:DNA, Recombinant; D003596:Cytosine; D005294:Ferrochelatase; D013941:Thymine