Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.

@article{Wallace1990Type1N,
  title={Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.},
  author={Margaret R. Wallace and Douglas A. Marchuk and Lone B. Andersen and Robert Letcher and Hana Odeh and Ann M. Saulino and Jane W. Fountain and Avril V. Brereton and Jeremy Nicholson and Alexander L Mitchell},
  journal={Science},
  year={1990},
  volume={249 4965},
  pages={181-6}
}
Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the neural crest. No reliable cellular phenotypic marker has been identified, which has hampered direct efforts to identify the gene. The chromosome location of the NF1 gene has been previously mapped genetically to 17q11.2, and data from two NF1 patients with balanced translocations in this region have further narrowed the candidate interval. The… CONTINUE READING
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