Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation

American Journal of Medical Genetics

Volumn 110, Issue 2, 2002, Pages 131-135

  Etzioni, Amos ^a   Sturla, Laura ^b   Antonellis, Anthony ^c,d   Green, Eric D ^c   Gershoni Baruch, Ruth ^a   Berninsone, Patricia M ^e   Hirschberg, Carlos B ^e   Tonetti, Michela ^f  

^a RAMBAM MEDICAL CENTER   (Israel)

^b G GASLINI INSTITUTE   (Italy)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d GEORGE WASHINGTON UNIVERSITY   (United States)

^e BOSTON UNIVERSITY   (United States)

^f UNIVERSITY OF GENOA   (Italy)

Author keywords

Fucose; Golgi apparatus; Leukocyte adhesion defect

Indexed keywords

GUANOSINE DIPHOSPHATE FUCOSE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONSANGUINEOUS MARRIAGE; GENE MUTATION; GENETIC CORRELATION; GOLGI COMPLEX; GROWTH RETARDATION; HUMAN; LEUKOCYTE ADHESION DEFICIENCY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION;

BASE SEQUENCE; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CARRIER PROTEINS; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENOTYPE; HUMANS; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE;

EID: 0037097344     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10423     Document Type: Article

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12. The defective gene in leukocyte adhesion deficiency II coded for a putative GDP-fucose transporter
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