A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis
Author:
Affiliation:
1. Innovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China
Funder
Beijing Municipal Administration of Hospital’s Youth Programme
National Natural Science Foundation of China
National Key R&D Program of China
Publisher
Informa UK Limited
Subject
General Medicine,General Neuroscience
Link
https://www.tandfonline.com/doi/pdf/10.1080/00207454.2020.1713774
Reference7 articles.
1. Cerebrotendinous Xanthomatosis
2. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.
3. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
4. Silent Nucleotide Substitution in the Sterol 27-Hydroxylase Gene (CYP 27) Leads to Alternative Pre-mRNA Splicing by Activating a Cryptic 5‘ Splice Site at the Mutant Codon in Cerebrotendinous Xanthomatosis Patients
Cited by 11 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report;Journal of Medical Case Reports;2024-07-11
2. Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings;International Journal of Neuroscience;2023-12-28
3. Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review;The Egyptian Journal of Neurology, Psychiatry and Neurosurgery;2023-04-18
4. Cerebrotendinous xanthomatosis: A case report;Asian Journal of Surgery;2022-02
5. Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy;The Journal of Maternal-Fetal & Neonatal Medicine;2021-12-20
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3