Article
Mutations within the FLR exon of NF1 are rare in myelodysplastic syndromes and acute myelocytic leukemias.
Leukemia - 1 Jul 1993
Ludwig L, Janssen J W, Schulz A S, Bartram C R
Abstract excerpt
A mutational hotspot in the neurofibromatosis 1 (NF1) gene has recently emerged from the analysis of different malignancies including one patient with myelodysplastic syndrome (MDS). In these cases, Lys 1423 in the GTPase-activating protein (GAP)-related domain of NF1 is substituted which causes a significant reduction of intrinsic GAP activity. We studied 57 MDS patients and 27 cases of acute myelocytic leukemia...
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