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A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family

✍ Scribed by Shinji Susa; M. Daimon; Ikuo Yamamori; Masao Kondo; Keiichi Yamatani; Hideo Sasaki; Takeo Kato

Publisher: Nature Publishing Group
Year: 1998
Tongue: English
Weight: 556 KB
Volume: 43
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380050065

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Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. Only 11 mutations of the gene have been reported in HCP patients. We report another mutation in a Japanese family. Polymerase chain

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