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Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene

Journal Article published 28 Nov 2017 in Journal of Internal Medicine volume 283 issue 6 on pages 604 to 606

Authors: H. Jiao, M. Olin, M. Hansson, G. Eggertsen, M. Eriksson, B. Angelin, I. Björkhem