Unique CD18 mutations involving a deletion in the extracellular stalk region and a major truncation of the cytoplasmic domain in a patient with leukocyte adhesion deficiency type 1

Blood

Volumn 103, Issue 3, 2004, Pages 1105-1113

  Hixson, Patricia ^b   Smith, C Wayne ^a   Shurin, Susan B ^b   Tosi, Michael F ^b  

^a CHILDREN S NUTRITION RESEARCH CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BETA2 INTEGRIN; CD11B ANTIGEN; CD18 ANTIGEN; GENE PRODUCT; LYMPHOCYTE FUNCTION ASSOCIATED ANTIGEN 1; MAC 1BETA2 PROTEIN; MUT 2BETA2 PROTEIN; PROTEIN SUBUNIT; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CELLULAR DISTRIBUTION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONTROLLED STUDY; CYTOPLASM; EXON; EXTRACELLULAR SPACE; EXTRACELLULAR STALK REGION; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HUMAN; LEUKOCYTE ADHESION DEFICIENCY; MALE; NEUTROPHIL; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 1642500310     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-08-2780     Document Type: Article

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