Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.
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K. S. Kim | Y. Seyama | I. Björkhem | G. Eggertsen | S. Kubota | W. Chen | J. Cheng | M. Kuriyama