M. Barozzini

Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).

R. Tiozzo, S. Bertolini, M. L. Simone, 1996, Atherosclerosis.

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

A. Federico, M. Dotti, S. Bertolini, 1996, Journal of lipid research.

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

R. Tiozzo, A. Federico, S. Bertolini, 1996, Journal of lipid research.