Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.

@article{Eisenbarth2000TowardAS,
  title={Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.},
  author={Ingrid Eisenbarth and Kartrin Beyer and Winfrid Krone and Guenter Assum},
  journal={American journal of human genetics},
  year={2000},
  volume={66 2},
  pages={393-401}
}
Neurofibromatosis type 1 (NF1), a common autosomal dominant disorder caused by mutations of the NF1 gene, is characterized by multiple neurofibromas, pigmentation anomalies, and a variety of other possible complications, including an increased risk of malignant neoplasias. Tumorigenesis in NF1 is believed to follow the two-hit hypothesis postulated for tumor-suppressor genes. Loss of heterozygosity (LOH) has been shown to occur in NF1-associated malignancies and in benign neurofibromas, but… CONTINUE READING

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