Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes

Immunologic Research

Volumn 44, Issue 1-3, 2009, Pages 84-88

  Ochs, Hans D ^a,b  

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

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

Genotype phenotype correlation; Mutation analysis; WASP gene; Wiskott Aldrich Syndrome; X linked neutropenia; X linked thrombocytopenia

Indexed keywords

PROTEIN CDC42; WISKOTT ALDRICH SYNDROME PROTEIN;

ACTIN POLYMERIZATION; AMINO TERMINAL SEQUENCE; APOPTOSIS; AUTOIMMUNE DISEASE; BINDING SITE; CELL ACTIVITY; CELL COMMUNICATION; CELL INTERACTION; CELL MIGRATION; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LYMPHOCYTE FUNCTION; MISSENSE MUTATION; NATURAL KILLER T CELL; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; REGULATORY T LYMPHOCYTE; REVIEW; SYNAPSE; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER; GENETICS; IMMUNOLOGY; MALE; METABOLISM; MUTATION;

CDC42 GTP-BINDING PROTEIN; HUMANS; MALE; MUTATION; NEUTROPENIA; THROMBOCYTOPENIA; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 69849096613     PISSN: 0257277X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12026-008-8084-3     Document Type: Review

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