Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).

by K S Kim, S Kubota, M Kuriyama, J Fujiyama, I Björkhem, G Eggertsen, Y Seyama
Published 1994-06-01

Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated famili...

by W Chen, S Kubota, K S Kim, J Cheng, M Kuriyama, G Eggertsen, I Björkhem, Y Seyama
Published 1997-05-01