Glut1 deficiency: Inheritance pattern determined by haploinsufficiency

Annals of Neurology

Volumn 68, Issue 6, 2010, Pages 955-958

  Rotstein, Michael ^a   Engelstad, Kristin ^a   Yang, Hong ^a   Wang, Dong ^a   Levy, Brynn ^a   Chung, Wendy K ^a   De Vivo, Darryl C ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER 1;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONSANGUINEOUS MARRIAGE; CORRELATION COEFFICIENT; DISEASE SEVERITY; ERYTHROCYTE; FAMILY STUDY; FEMALE; GENE MUTATION; GLUCOSE TRANSPORT; GLUCOSE TRANSPORTER 1 DEFICIENCY; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MALE; MICROARRAY ANALYSIS; MISSENSE MUTATION; PATHOGENICITY; PRESCHOOL CHILD; PRIORITY JOURNAL;

3-O-METHYLGLUCOSE; ANIMALS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GLUCOSE METABOLISM DISORDERS; GLUCOSE TRANSPORTER TYPE 1; HAPLOINSUFFICIENCY; HUMANS; MALE; MODELS, MOLECULAR; NEUROLOGIC EXAMINATION; OOCYTES; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSFECTION; XENOPUS;

EID: 78650879881     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22088     Document Type: Article

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