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11-7C and D and Table 11-2), hematologic diseases (Table 11-3), endocrine disorders (Table 11-4), connective tissue diseases 184 (Table 11-5), local and systemic infections (Table 11-6), neoplasia (Table 11-7), and renal, hepatic, pulmonary, and gastrointestinal disorders (Table 11-8)

These mutations are frameshifts in exon 2 that result in the failure to make GATA1 protein, continued formation of GATA1-S, and therefore a greatly reduced ability to regulate GATA1-targeted genes

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