Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.
作者信息
Jiao H, Olin M, Hansson M, Eggertsen G, Eriksson M, Angelin B, Björkhem I
机构信息
Clinical Research Centre, Department of Biosciences and Nutrition, Karolinska Institutet at Karolinska University Hospital, Huddinge, Sweden.
Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital, Huddinge, Sweden.
出版信息
J Intern Med. 2018 Jun;283(6):604-606. doi: 10.1111/joim.12709. Epub 2017 Nov 28.
PMID:29095540
Abstract
摘要
Zotero 插件