Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene

Author:

El Messal Mariame,Aït Chihab Karima,Chater Rachid,Vallvé Joan Carles,Bennis Faïza,Hafidi Aïcha,Ribalta Josep,Varret Mathilde,Loutfi Mohammed,Rabès Jean Pierre,Kettani Anass,Boileau Catherine,Masana Luis,Adlouni Ahmed

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Fisher E, Scharnagl H, Hoffmann MM, et al. (1999) Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500→Trp) associated with two new haplotype and evidence that apo B-100 (Glu3405→Gln) diminishes receptor-mediated uptake of LDL. Clin Chem 45:1026–1038

2. Fouchier SW, Defesche JC, Umans-Eckenhausen MA, Kastelein JJ (2001) The molecular basis of hypercholesterolemia in the Netherlands. Hum Genet 109:602–615

3. Friedewald WT, Levy FI, Fredrickson DS (1972) Estimation of the concentration of the low density lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge. Clin Chem 18:499–509

4. Gaffney D, Reid JM, Cameron IM, Vass K, Caslake M, Sheperd J, Packard CJ (1995) Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidaemia. Arterioscler Thromb Vasc 15:1025–1029

5. Goldstein JL, Hobbs HH, Brown MS (1995) Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 1981–2030

同舟云学术

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