We investigated the molecular basis of ferrochelatase in a Japanese patient with erythropoietic protoporphyria (EPP), complicated by fatal liver failure, and defined a novel point mutation in the ferrochelatase gene. cDNAs were synthesized using Epstein-Barr-virus-transformed lymphoblastoid cells fr
Erythropoietic protoporphyria with fatal liver failure
β Scribed by Akiko Ishibashi; Riko Ogata; Shotaro Sakisaka; Ryukichi Kumashiro; Yuriko Koga; Keiichi Mitsuyama; Ryoko Kuromatsu; Yasuyo Uchimura; Hiroyasu Ijyuin; Kumi Tanaka; Tadashi Iwao; Kunihide Ishii; Michio Sata; Yoshiko Inoue; Yasuko Kin; Kotaro Oizumi; Hidemi Nishida; Tsutomu Imaizumi; Kyuichi Tanikawa
- Publisher
- Springer Japan
- Year
- 1999
- Tongue
- English
- Weight
- 324 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0944-1174
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