换一批
换一批Identification of an iron-responsive subtype in two children diagnosed with relapsing-remitting multiple sclerosis using whole exome sequencing.
第一作者：
Susan J,van Rensburg
第一单位：
Division of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
作者：
关键词
CNS, central nervous systemCoQ, Coenzyme QDFO, desferroxamine mesylateDIS, dissemination in spaceDIT, dissemination in timeDMT, disease modifying therapyEDSS, Expanded Disability Status ScaleETC, electron transport chainGWAS, genome-wide association studyGenetic variantsHDL, high density lipoproteinHERV-W, human endogenous retrovirus WHLA, human leukocyte antigenHREC, human research ethics committeeIPMSSG, International Pediatric Multiple Sclerosis Study GroupIRE, iron-response elementIron deficiencyMGA1, juvenile hereditary megaloblastic anemia 1MRI, magnetic resonance imagingMS, Multiple sclerosisMSRV, MS-associated retrovirusMST1R, macrophage stimulating-1 receptorMitochondriaOxidative stressPSGT, pathology supported genetic testingPediatric onset multiple sclerosisROS, reactive oxygen speciesRRMS, relapsing-remitting MSSAMe, S-adenosyl methionineSDHB, iron-protein subunit of Complex IITF, transferrinTMPRSS6, transmembrane protease, serine 6WES, whole exome sequencingWhole exome sequencing
DOI
10.1016/j.ymgmr.2019.100465
PMID
30963028
发布时间
2024-07-16
- 浏览17
Molecular genetics and metabolism reports
2019年19卷
100465页
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