Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.
第一作者:
Tsuyoshi,Nozue
第一单位:
Division of Cardiology, Department of Internal Medicine, Yokohama Sakae Kyosai Hospital, Federation of National Public Service Personnel Mutual Associations, Yokohama, Japan. nozue2493@yahoo.co.jp
作者:
医学主题词
老年人(Aged);人类(Humans);男(雄)性(Male);突变, 误义(Mutation, Missense);黄瘤病, 脑腱性(Xanthomatosis, Cerebrotendinous)
DOI
10.2169/internalmedicine.49.3277
PMID
20558929
发布时间
2022-12-07
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