Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.
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R. Tiozzo | A. Federico | S. Bertolini | S. Calandra | R. Garuti | M. Dotti | N. Lelli | M. Barozzini | A. M. Ottomano | A. Croce