A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene

British Journal of Haematology

Volumn 144, Issue 1, 2009, Pages 120-126

  Beel, Karolien ^a   Cotter, Melanie M ^b   Blatny, Jan ^b   Bond, Jonathan ^b   Lucas, Geoff ^c   Green, Frances ^c   Vanduppen, Vik ^a   Leung, Daisy W ^d   Rooney, Sean ^b   Smith, Owen P ^b   Rosen, Michael K ^d   Vandenberghe, Peter ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c NHS BLOOD AND TRANSPLANT   (United Kingdom)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Neutropenia; Wiskott Aldrich syndrome protein; X linked

Indexed keywords

ACTIN; DNA; IMMUNOGLOBULIN A; WISKOTT ALDRICH SYNDROME PROTEIN;

ACTIN POLYMERIZATION; ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; ARTICLE; CELL COUNT; CLINICAL FEATURE; DISEASE COURSE; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOGLOBULIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; MYELODYSPLASTIC SYNDROME; NATURAL KILLER CELL; NEUTROPENIA; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; THROMBOCYTE COUNT; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; CHILD; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; FEMALE; FLOW CYTOMETRY; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; NEUTROPENIA; PEDIGREE; WISKOTT-ALDRICH SYNDROME PROTEIN; X CHROMOSOME INACTIVATION;

EID: 57449089754     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07416.x     Document Type: Article

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