Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene
- 31 July 1996
- journal article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 129 (1) , 56-62
- https://doi.org/10.1016/s0022-3476(96)70190-7
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locusHuman Molecular Genetics, 1995
- X–linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP geneNature Genetics, 1995
- Isolation of a novel gene mutated in Wiskott-Aldrich syndromeCell, 1994
- Interleukin‐2 (IL‐2) receptor γ chain mutations in X‐linked severe combined immunodeficiency disease result in the loss of high‐affinity IL‐2 receptor bindingEuropean Journal of Immunology, 1994
- Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27βHuman Genetics, 1992
- X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriersAnnals of Hematology, 1991
- Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.Proceedings of the National Academy of Sciences, 1987
- An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAsNucleic Acids Research, 1987
- X-Linked Thrombocytopenic PurpuraAmerican Journal of Diseases of Children, 1972
- A NEWLY DEFINED X-LINKED TRAIT IN MAN WITH DEMONSTRATION OF THE LYON EFFECT IN CARRIER FEMALESThe Lancet, 1967