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- W4312530557 abstract "Six boys aged from 4 months to 15 years old were diagnosed with Wiskott-Aldrich syndrome in the Republican Research Centre for Pediatric Oncology and Hematology. All the patients revealed WAS gene mutations. The missence-mutations in exones 2 and 3, detected in 4 patients prevailed in the spectrum of the mutations. WASP was fully absent in lymphocytes and rather a severe course of the disease was observed in all the patients. Only one child with WAS gene mutation in second exone had a mild course of the disease. The mutations were localized in tenth exone in two patients, which is a nonsense of the mutation. The WASP expression was partially preserved in one patient with such mutation." @default.
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- W4312530557 date "2011-12-28" @default.
- W4312530557 modified "2023-10-06" @default.
- W4312530557 title "GENOTYPE-PHENOTYPIC DESCRIPTION OF PATIENTS WITH WISKOTT-ALDRICH SYNDROME" @default.
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- W4312530557 doi "https://doi.org/10.51523/2708-6011.2011-8-2s-34" @default.
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