Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations

@article{Serra2001SomaticNM,
  title={Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations},
  author={E. Serra and E. Ars and A. Ravella and A. S{\'a}nchez and S. Puig and T. Rosenbaum and X. Estivill and C. L{\'a}zaro},
  journal={Human Genetics},
  year={2001},
  volume={108},
  pages={416-429}
}
  • E. Serra, E. Ars, +5 authors C. Lázaro
  • Published 2001
  • Biology, Medicine
  • Human Genetics
  • Abstract. Neurofibromas, benign tumors that originate from the peripheral nerve sheath, are a hallmark of neurofibromatosis type 1 (NF1). Although loss of heterozygosity (LOH) is a common phenomenon in this neoplasia, it only accounts for part of the somatic NF1 mutations found. Somatic point mutations or the presence of "two hits" in the NF1 gene have only been reported for a few neurofibromas. The large size of the NF1 gene together with the multicellular composition of these tumors has… CONTINUE READING
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