Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases
Author:
Publisher
Elsevier BV
Subject
Anesthesiology and Pain Medicine
Link
http://academic.oup.com/bja/article-pdf/102/5/642/14112118/aep061.pdf
Reference26 articles.
1. Malignant hyperthermia: advances in clinical management and diagnosis;Hopkins;Br J Anaesth,2000
2. In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group;Ording;Acta Anaesthesiol Scand,1997
3. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19;Kausch;Genomics,1991
4. Central core disease: clinical, pathological, and genetic features;Quinlivan;Arch Dis Child,2003
5. Mutations in RYR1 in malignant hyperthermia and central core disease;Robinson;Hum Mutat,2006
Cited by 17 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. Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019;Orphanet Journal of Rare Diseases;2020-05-07
2. Genetic epidemiology of malignant hyperthermia in the UK;British Journal of Anaesthesia;2018-10
3. Malignant hyperthermia;Thermoregulation: From Basic Neuroscience to Clinical Neurology, Part II;2018
4. Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency;Neuromuscular Disorders;2017-05
5. Functional analysis ofRYR1variants linked to malignant hyperthermia;Temperature;2016-02-26
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