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

Ornek Erguzeloglu C., Kara B., Karacan I., Ozdemir O., Kesim Y., Bebek N., Ozbek U., Ugur Iseri SA.

DOI

10.26650/IUITFD.2019.0064

Type

Journal article

Publication Date

2020-01-01T00:00:00+00:00

Volume

83

Pages

177 - 183

Total pages

6

Keywords

Glucose transporter-1 deficiency syndrome (GLUT1-DS), SLC2A1, de novo variations, CNV analysis, SNP array

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