Article
Loss of heterozygosity of NF1 gene in juvenile chronic myelogenous leukemia with neurofibromatosis type 1.
International journal of hematology - 1 Jul 1998
Kai S, Sumita H, Fujioka K, Takahashi H, Hanzawa N, Funabiki T, Ikuta K, Sasaki H
Abstract excerpt
To investigate a genetic relation between juvenile chronic myelogenous leukemia (JCML) and neurofibromatosis type 1 (NF-1), we analyzed the NF1 gene in the leukemic cells of a JCML patient with NF-1. We found a point mutation in exon 29 of one allele and a deletion of the other normal allele in the leukemic cells. The point mutation is considered a germline mutation because it was also detected in fibroblasts...
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