Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome

Human Mutation

Volumn 16, Issue 3, 2000, Pages 224-231

  Wang, Dong ^a   Kranz Eble, Pamela ^a   De Vivo, Darryl C ^a,b  

^a Columbia University ^*  (United States)

^b NEUROLOGICAL INSTITUTE   (United States)

Author keywords

Blood brain barrier; Developmental delay; Glucose transport defect; GLUT1; Hypoglycorrhachia; Infantile seizures; Microcephaly; SLC2A1

Indexed keywords

GLUCOSE TRANSPORTER;

ARTICLE; BLOOD BRAIN BARRIER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MICROCEPHALY; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SEIZURE; SYNDROME;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; GLUCOSE TRANSPORTER TYPE 1; HETEROZYGOTE DETECTION; HUMANS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; RNA SPLICE SITES; SYNDROME;

EID: 0033850218     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P     Document Type: Article

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