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تعداد آیتم قابل مشاهده باقیمانده : -22 مورد

Mutations in the Wiskott-Aldrich syndrome (WAS) gene

Mutations in the Wiskott-Aldrich syndrome (WAS) gene
WAS gene mutations causing both classic Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Types of mutations are based upon molecular analysis.
Arp2/3: actin-related protein 2/3; CRIB: Cdc42- and Rac-interactive binding; del: deletion; GBD: GTPase-binding domain; PH: Pleckstrin homology; SH3: Src homology 3; WIP: WASP-interacting protein.
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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