医学
喜树酯
桑格测序
复合杂合度
内科学
胆固醇
胃肠病学
甾醇
家族性高胆固醇血症
外显子组测序
内分泌学
等位基因
基因
遗传学
DNA测序
生物
突变
作者
David D. Fang,Lei Liang,Wen-juan Qiu,Yanjie Fan,Yuxiu Sun,Haiying Yan,Yadong Yu,Xuefan Gu
出处
期刊：PubMed
[National Institutes of Health]
日期：2018-06-02
卷期号：56 (6): 435-439
被引量：5
标识
DOI：10.3760/cma.j.issn.0578-1310.2018.06.006
摘要
Children with sitosterolemia presented with skin xanthomas around the joint areas. The level of total cholesterol, low density lipoprotein cholesterol and plant sterols increased obviously. One novel variant (p.Q251X) of ABCG5 and 2 novel variants (p.R263Q, c.1528_1530delATC) of ABCG8 were identified. Children with sitosterolemia responded well to a low plant sterols/low cholesterol diet.
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