DNA-Based Diagnosis of Isolated Sulfite Oxidase Deficiency by Denaturing High-Performance Liquid Chromatography-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

DNA-Based Diagnosis of Isolated Sulfite Oxidase Deficiency by Denaturing High-Performance Liquid Chromatography

Published:2002-01 Issue:1 Volume:75 Page:91-95
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Lam Ching-Wan,Li Chi-Keung,Lai Chi-Kong,Tong Sui-Fan,Chan Kwok-Yin,Ng Grace Sui-Fun,Yuen Yuet-Ping,Cheng Anna Wai-Fun,Chan Yan-Wo

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference5 articles.

1. Molecular cloning of human liver sulfite oxidase;Garrett;Biochim Biophys Acta,1995

2. Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase;Kisker;Cell,1997

3. Human sulfite oxidase R160Q: Identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme;Garrett;Proc Natl Acad Sci USA,1998

4. Isolated sulfite oxidase deficiency;Rupar;Neuropediatrics,1996

5. Denaturing high-performance liquid chromatography: A review;Xiao;Hum Mutat,2001

Cited by 21 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. Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency;Clinica Chimica Acta;2022-07

2. Ending diagnostic odyssey using clinical whole-exome sequencing (CWES);Journal of Laboratory Medicine;2021-11-04

3. Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family;Frontiers in Genetics;2021-05-07

4. Isolated sulfite oxidase deficiency;Journal of Inherited Metabolic Disease;2017-10-04

5. A compound heterozygote case of isolated sulfite oxidase deficiency;Molecular Genetics and Metabolism Reports;2017-09

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