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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Mutations in the WAS gene causing X-linked thrombocytopenia

Mutations in the WAS gene causing X-linked thrombocytopenia
This analysis includes patients worldwide with X-linked thrombocytopenia (XLT). This is a separate analysis from the Wiskott-Aldrich syndrome mutation figure and includes additional patients with XLT. Note that missense mutations predominate and cluster in certain exons, although there is overlap with mutations causing Wiskott-Aldrich syndrome.
Data from:
  1. Jin Y, Mazza C, Christie JR, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): Hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 2004; 104:4010.
  2. Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol 2006; 117:725.
  3. Albert MH, Bittner TC, Nonoyama S, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: Clinical characteristics, long-term outcome, and treatment options. Blood 2010; 115:3231.
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