Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.

Gallus, G N; Dotti, M T; Federico, A

Gallus, G N; Dotti, M T; Federico, A.

Affiliation

Gallus GN; Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, I-53100, Siena, Italy.

Neurol Sci ; 27(2): 143-9, 2006 Jun.

Article in En | MEDLINE | ID: mdl-16816916

Subject(s)

Steroid Hydroxylases/genetics; Xanthomatosis, Cerebrotendinous/diagnosis; Xanthomatosis, Cerebrotendinous/genetics; Xanthomatosis, Cerebrotendinous/physiopathology; Cholestanetriol 26-Monooxygenase; Humans; Mutation

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Collection: 01-internacional Database: MEDLINE Main subject: Steroid Hydroxylases / Xanthomatosis, Cerebrotendinous Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2006 Type: Article Affiliation country: Italy

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