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A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.
Clin Genet ; 61(1): 77-8, 2002 Jan.
Article in En | MEDLINE | ID: mdl-11903362
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Collection: 01-internacional Database: MEDLINE Main subject: Steroid Hydroxylases / Xanthomatosis, Cerebrotendinous / Cytochrome P-450 Enzyme System / Mutation Limits: Adult / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Clin Genet Year: 2002 Document type: Article Country of publication: Dinamarca
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Collection: 01-internacional Database: MEDLINE Main subject: Steroid Hydroxylases / Xanthomatosis, Cerebrotendinous / Cytochrome P-450 Enzyme System / Mutation Limits: Adult / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Clin Genet Year: 2002 Document type: Article Country of publication: Dinamarca