Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference21 articles.
1. Canine brain glucose transporter 3: Gene sequence, phylogenetic comparisons and analysis of functional sites
2. Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency
3. Carnitine Transporter OCTN2 Mutations in Systemic Primary Carnitine Deficiency: A Novel Arg169Gln Mutation and a Recurrent Arg282ter Mutation Associated with an Unconventional Splicing Abnormality
4. Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation
5. Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption
Cited by 57 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. Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency;Proceedings of the National Academy of Sciences;2022-11-07
2. Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach;Journal of Inherited Metabolic Disease;2022-02-03
3. Role of carnitine in regulation of blood pressure (MAP/SBP) and gene expression of cardiac hypertrophy markers (α/β‐MHC) during insulin‐induced hypoglycaemia: Role of oxidative stress;Clinical and Experimental Pharmacology and Physiology;2020-12-27
4. A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns;Annals of Translational Medicine;2020-09
5. Disorders of lipid metabolism;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
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