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Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.
Journal of Internal Medicine ( IF 11.1 ) Pub Date : 2017-11-03 , DOI: 10.1111/joim.12709 H Jiao 1 , M Olin 2 , M Hansson 2 , G Eggertsen 2 , M Eriksson 3, 4 , B Angelin 3, 4 , I Björkhem 2
中文翻译:
再次探讨脑腱黄瘤病的独特病例:引起该病的所有突变均存在于CYP27A1基因中。
更新日期:2019-11-01
Journal of Internal Medicine ( IF 11.1 ) Pub Date : 2017-11-03 , DOI: 10.1111/joim.12709 H Jiao 1 , M Olin 2 , M Hansson 2 , G Eggertsen 2 , M Eriksson 3, 4 , B Angelin 3, 4 , I Björkhem 2
Affiliation
中文翻译:
再次探讨脑腱黄瘤病的独特病例:引起该病的所有突变均存在于CYP27A1基因中。