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- [9] A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis ORPHANET JOURNAL OF RARE DISEASES, 2010, 5
- [10] A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis Orphanet Journal of Rare Diseases, 5