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SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME

dc.contributor.authorKesim, Yesim
dc.contributor.authorUgur Iseri, Sibel Aylin
dc.contributor.authorOzdemir, Ozkan
dc.contributor.authorBebek, Nerses
dc.contributor.authorOzbek, Ugur
dc.contributor.authorOrnek Erguzeloglu, Cemre
dc.contributor.authorKARA, BÜLENT
dc.contributor.authorKaracan, Ilker
dc.date.accessioned2021-03-02T18:19:37Z
dc.date.available2021-03-02T18:19:37Z
dc.date.issued2020
dc.identifier.citationOrnek Erguzeloglu C., KARA B., Karacan I., Ozdemir O., Kesim Y., Bebek N., Ozbek U., Ugur Iseri S. A. , "SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME", JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.83, sa.3, ss.177-183, 2020
dc.identifier.othervv_1032021
dc.identifier.otherav_69e8c198-69b2-4029-b32a-952f66811ed1
dc.identifier.urihttp://hdl.handle.net/20.500.12627/4861
dc.identifier.urihttps://doi.org/10.26650/iuitfd.2019.0064
dc.description.abstractObjective: Glucose transporter-1 deficiency syndrome (GLUT1- DS) is defined as a metabolic encephalopathy that is associated with heterozygous and usually de novo pathogenic variations in the SLC2A1 (solute carrier family2 member1) gene.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectTIP, GENEL & İÇECEK
dc.titleSCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME
dc.typeMakale
dc.relation.journalJOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
dc.contributor.departmentİstanbul Teknik Üniversitesi , ,
dc.identifier.volume83
dc.identifier.issue3
dc.identifier.startpage177
dc.identifier.endpage183
dc.contributor.firstauthorID2282535


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