Article
Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders.
The New England journal of medicine - 12 Jun 1997
Side L, Taylor B, Cayouette M, Conner E, Thompson P, Luce M, Shannon K
Abstract excerpt
BACKGROUND: The risk of malignant myeloid disorders in young children with neurofibromatosis type 1 is 200 to 500 times the normal risk. The gene for neurofibromatosis type 1 (NF1) encodes neurofibromin, a protein that negatively regulates signals transduced by Ras proteins. Genetic and biochemic...
Topics
- Bone Marrow
- Child
- Child, Preschool
- Female
- Gene Expression Regulation, Neoplastic
- Homozygote
- Humans
- Infant
- Leukemia, Myeloid
- Male
- Mutation
- Myelodysplastic Syndromes
- Neurofibromatosis 1
- Neurofibromin 1
- Proteins