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Document type:
journal article 
Author(s):
Binder, V; Albert, MH; Kabus, M; Bertone, M; Meindl, A; Belohradsky, BH 
Title:
The genotype of the original Wiskott phenotype. 
Abstract:
The Wiskott-Aldrich syndrome is an X-linked hereditary disorder associated with combined immunodeficiency, thrombocytopenia, small platelets, eczema, and increased susceptibility to autoimmune disorders and cancers. It is caused by mutations in the gene (WAS) for the Wiskott-Aldrich syndrome protein (WASP). We investigated family members of the patients originally described by Wiskott in 1937 and identified a new frame shift mutation in exon 1 of WAS. This mutation is likely to be the hypothesiz...    »
 
Journal title abbreviation:
N Engl J Med 
Year:
2006 
Journal volume:
355 
Journal issue:
17 
Pages contribution:
1790-3 
Language:
eng 
Print-ISSN:
0028-4793 
TUM Institution:
Frauenklinik und Poliklinik