Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population

J Invest Dermatol. 2006 Dec;126(12):2717-9. doi: 10.1038/sj.jid.5700456. Epub 2006 Jun 22.

Authors

Hajime Nakano, Aoi Nakano, Yuka Toyomaki, Shigeki Ohashi, Ken Harada, Ryuta Moritsugu, Hitoshi Takeda, Akira Kawada, Yoshihiko Mitsuhashi, Katsumi Hanada

PMID: 16794582
DOI: 10.1038/sj.jid.5700456

No abstract available

Publication types

Letter

MeSH terms

Asian People / genetics*
Cytosine
DNA, Recombinant
Ferrochelatase / genetics*
Humans
Introns
Mutation*
Pedigree
Polymorphism, Genetic*
Protoporphyria, Erythropoietic
Thymine

Substances

DNA, Recombinant
Cytosine
Ferrochelatase
Thymine