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Background
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NF1 encodes the protein neurofibromin, which appears to be a negative regulator of the ras signal transduction pathway. Mutations linked to neurofibromatosis type 1 led to the identification of NF1. In addition to type 1 neurofibromatosis, mutations in NF1 can also lead to juvenile myelomonocytic leukemia.
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Background
References
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- Zhu, C., et al., J. Biol. Chem. 279(49):50874-50885 (2004).
- Zou, M.X., et al., Oncogene 23(2):330-339 (2004).
- Lasota, J., et al., Lab. Invest. 83(9):1361-1371 (2003).
- Baralle, D., et al., BMC Dermatol. 119(1):1-8 (2003).
- Wang, Q., et al., Hum. Genet. 112(2):117-123 (2003).
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