Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: Evidence for a founder haplotype for the most commonPEX10 gene mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference8 articles.
1. Temperature-Sensitive Phenotypes of Peroxisome-Assembly Processes Represent the Milder Forms of Human Peroxisome-Biogenesis Disorders
2. 1995. Disorders of peroxisome biogenesis. In: editors. The metabolic and molecular basis of inherited disease. 7th Edn. New York: McGraw-Hill, pp 2287-2324.
3. Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B
4. A Human Gene Responsible for Zellweger Syndrome That Affects Peroxisome Assembly
5. Genetic Basis of Peroxisome-Assembly Mutants of Humans, Chinese Hamster Ovary Cells, and Yeast: Identification of a New Complementation Group of Peroxisome-Biogenesis Disorders Apparently Lacking Peroxisomal-Membrane Ghosts
Cited by 24 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 novel splice variant in intron 10 of PEX6 is associated with Zellweger Syndrome in a Chinese neonate;Gene;2024-11
2. Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center;Scientific Reports;2024-07-15
3. Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder;Ophthalmic Genetics;2024-04-25
4. Fatty Acid Metabolism in Peroxisomes and Related Disorders;Advances in Experimental Medicine and Biology;2024
5. Secondary Findings of Newborn Screening;OBM Genetics;2023-08-31
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