Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy.

作者: Carolyn J. Owen , Cynthia L. Toze , Anna Koochin , Donna L. Forrest , Clayton A. Smith

DOI: 10.1182/BLOOD-2008-05-156745

关键词: TransplantationBlood Platelet DisordersLymphoproliferative disordersBiologyImmunologyMyeloid NeoplasmPlatelet disorderHematopoietic stem cell transplantationMyeloid leukemiaPatau's syndrome

摘要: … in AML 9 and by point mutations in MDS. An exception occurs in the most undifferentiated subtype of AML, FAB class M0, in which point mutations occur in approximately 20% of cases. …

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