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Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family |
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| Authors: | Noboru Takamura Isabelle Hombrados Ken Tanigawa Hiroyuki Namba Yuji Nagayama Hubert de Verneuil Shunichi Yamashita |
| Affiliation: | Department of Preventive Medicine, Atomic Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan |
| Abstract: | |
| Keywords: | uroporphyrinogen III synthase (UROIIIS) congenital erythropoietic porphyria (CEP) |