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Laboratory examinations revealed elevated levels of C-reactive protein and thrombocytes. Sequencing results revealed that she had compound heterozygous mutations in CECR1 gene (c.1211T>C, p.Phe404Ser and c.1114 G>A, p.Val372Met).
Laboratory examinations revealed elevated levels of C-reactive protein and thrombocytes. Sequencing results revealed that she had compound heterozygous mutations in CECR1 gene (c.1211T>C, p.Phe404Ser and c.1114 G>A, p.Val372Met).
A Chinese DADA2 patient: report of two novel mutations and successful HSCT Jinqiao Sun & Xiaochuan Wang @FudanUniversity https://t.co/x9ExHN1l39 https://t.co/uheNophmOe