GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood- brain barrier hexose carrier

Nature Genetics

Volumn 18, Issue 2, 1998, Pages 188-191

  Seidner, Glen ^a   Alvarez, Marcela Garcia ^d   Yeh, Jih I ^b   O'Driscoll, Kevin R ^d   Klepper, Jörg ^d   Stump, Tammy S ^c   Wang, Dong ^d   Spinner, Nancy B ^c   Birnbaum, Morris J ^a,c   De Vivo, Darryl C ^d  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d NEUROLOGICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLOOD BRAIN BARRIER; CEREBROSPINAL FLUID LEVEL; CHROMOSOME 1P; CHROMOSOME MAP; GENE SEQUENCE; GLUCOSE TRANSPORT; GLUCOSE TRANSPORT SYSTEM; HEMIZYGOSITY; MEMBRANE TRANSPORT; MOLECULAR CLONING; MUTATION; NONHUMAN; PRIORITY JOURNAL;

ANIMALS; BLOOD-BRAIN BARRIER; BRAIN; CARCINOMA, HEPATOCELLULAR; CELL LINE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; DEVELOPMENTAL DISABILITIES; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LIVER NEOPLASMS; MALE; MICROCEPHALY; MONOSACCHARIDE TRANSPORT PROTEINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RATS; SEIZURES; SKIN; SYNDROME;

EID: 17344367164     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0298-188     Document Type: Article

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