Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population.
Nakano
Hajime
H
Nakano
Aoi
A
Toyomaki
Yuka
Y
Ohashi
Shigeki
S
Harada
Ken
K
Moritsugu
Ryuta
R
Takeda
Hitoshi
H
Kawada
Akira
A
Mitsuhashi
Yoshihiko
Y
Hanada
Katsumi
K
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
D004274:DNA, Recombinant; D003596:Cytosine; D005294:Ferrochelatase; D013941:Thymine