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

by R Garuti, N Lelli, M Barozzini, M T Dotti, A Federico, S Bertolini, S Calandra
Published 1996-03-01

Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis

by R Garuti, M A Croce, R Tiozzo, M T Dotti, A Federico, S Bertolini, S Calandra
Published 1997-11-01

Urinary excretion of mevalonic acid as an indicator of cholesterol synthesis

by B Lindenthal, A Simatupang, M T Dotti, A Federico, D Lütjohann, K von Bergmann
Published 1996-10-01

Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.

by R Garuti, N Lelli, M Barozzini, R Tiozzo, M T Dotti, A Federico, A M Ottomano, A Croce, S Bertolini, S Calandra
Published 1996-01-01