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Identification of a novel 2026G→C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome

✍ Scribed by Shinya Wakusawa; Ikuo Machida; Satoshi Suzuki; Hisao Hayashi; Motoyoshi Yano; Kentaro Yoshioka


Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
279 KB
Volume
48
Category
Article
ISSN
1435-232X

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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