Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis.

Garuti, R; Lelli, N; Barozzini, M; Dotti, M T; Federico, A; Bertolini, S; Calandra, S

Garuti, R; Lelli, N; Barozzini, M; Dotti, M T; Federico, A; Bertolini, S; Calandra, S.

Affiliation

Garuti R; Dipartimento di Scienze Biomediche, Universitá di Modena, Italy.

J Lipid Res ; 37(3): 662-72, 1996 Mar.

Article in En | MEDLINE | ID: mdl-8728327

Subject(s)

Cytochrome P-450 Enzyme System/genetics; Sequence Deletion; Steroid Hydroxylases/genetics; Xanthomatosis, Cerebrotendinous/genetics; Adult; Base Sequence; Blotting, Northern; Blotting, Southern; Cells, Cultured; Cholestanetriol 26-Monooxygenase; Cytochrome P-450 Enzyme System/chemistry; Cytochrome P-450 Enzyme System/deficiency; Female; Genetic Testing; Heterozygote; Humans; Introns/genetics; Italy; Molecular Sequence Data; Nucleic Acid Conformation; Polymerase Chain Reaction; Restriction Mapping; Sequence Analysis, DNA; Steroid Hydroxylases/chemistry; Steroid Hydroxylases/deficiency

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Collection: 01-internacional Database: MEDLINE Main subject: Steroid Hydroxylases / Sequence Deletion / Xanthomatosis, Cerebrotendinous / Cytochrome P-450 Enzyme System Type of study: Prognostic_studies Limits: Adult / Female / Humans Country/Region as subject: Europa Language: En Journal: J Lipid Res Year: 1996 Document type: Article Affiliation country: Italy Country of publication: United States

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