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Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene

✍ Scribed by Wengen Chen; Shunichiro Kubota; Yukiko Nishimura; Shuichi Nozaki; Shizuya Yamashita; Tsutomu Nakagawa; Kaoru Kameda-Takemura; Masakazu Menju; Yuji Matsuzawa; Ingemar Björkhem; Gösta Eggertsen; Yousuke Seyama


Book ID
117618159
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
681 KB
Volume
1317
Category
Article
ISSN
0925-4439

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Identification of a novel mutation of th
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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