Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia

Blood

Volumn 99, Issue 6, 2002, Pages 2268-2269

  Notarangelo, Lucia D ^a,b,c   Mazza, Cinzia ^a,b,c   Giliani, Silvia ^a,b,c   D'Aria, Chiara ^a,b,c   Gandellini, Francesca ^a,b,c   Ravelli, Chiara ^a,b,c   Locatelli, Maria Grazia ^a,b,c   Nelson, David L ^a,b,c   Ochs, Hans D ^a,b,c   Notarangelo, Luigi D ^a,b,c  

^a UNIVERSITY OF BRESCIA   (Italy)

^b NATIONAL CANCER INSTITUTE   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

WISKOTT ALDRICH SYNDROME PROTEIN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; FAMILY STUDY; GENETIC DISORDER; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR BIOLOGY; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; THROMBOCYTE COUNT; THROMBOCYTE VOLUME; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER;

EID: 0037085797     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V99.6.2268     Document Type: Article

References (13)

1. The Wiskott-Aldrich syndrome
2. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
3. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene
4. WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia
5. Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombo-cytopenia reveals allelic heterogeneity at the WAS locus
6. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype
7. WASP levels in platelets and lymphocytes of Wiskott-Aldrich syndrome patients correlate with cell dysfunction
8. WASPbase: A database of WAS- and XLT-causing mutations
9. Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis
10. Studies of the expression of the Wiskott-Aldrich syndrome protein
11. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
12. T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses
13. Antigen receptor-induced activation and cytoskeletal rearrangement are impaired in Wiskott-Aldrich syndrome protein-deficient lymphocytes