Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): Molecular characterization of the defect in an index family

American Journal of Hematology

Volumn 87, Issue 3, 2012, Pages 311-313

  Harris, Estelle S ^a   Smith, Tammy L ^a   Springett, Gregory M ^b   Weyrich, Andrew S ^a   Zimmerman, Guy A ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA1 INTEGRIN; BETA2 INTEGRIN; BETA3 INTEGRIN; CD47 ANTIGEN; CD98 ANTIGEN; CYTOSKELETON PROTEIN; FERMT3 PROTEIN; HETERODIMER; RAP1 PROTEIN; RECEPTOR FOR ACTIVATED C KINASE 1; UNCLASSIFIED DRUG; UROKINASE RECEPTOR;

BONE MARROW TRANSPLANTATION; CASE REPORT; CELL ADHESION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C; EXON; GENE MUTATION; HUMAN; IN VITRO STUDY; LETTER; MALE; OMPHALITIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INTERACTION; SIGNAL TRANSDUCTION; STAPHYLOCOCCAL BACTEREMIA; THRUSH;

ANTIGENS, CD18; ANTIGENS, CD29; BONE MARROW TRANSPLANTATION; CELL ADHESION; CELL LINE, TRANSFORMED; CELLS, CULTURED; CONSANGUINITY; GENETIC PREDISPOSITION TO DISEASE; HEMORRHAGIC DISORDERS; HEPATOMEGALY; HUMANS; INFANT; INFANT, NEWBORN; INFECTION; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; LEUKOCYTES; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; NEOPLASM PROTEINS; POINT MUTATION; RECURRENCE; SPLENOMEGALY;

EID: 84857052443     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.22253     Document Type: Letter

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