Somatic mosaicism in a patient with neurofibromatosis type 1.

  title={Somatic mosaicism in a patient with neurofibromatosis type 1.},
  author={Steven D. Colman and Sonja A Rasmussen and Vu T Ho and Corinne R Abernathy and Margaret R. Wallace},
  journal={American journal of human genetics},
  volume={58 3},
Using loss of heterozygosity analysis, a method designed to detect moderate to large gene deletions, we have identified a new-mutation neurofibromatosis type 1 (NF1) patient who is somatically mosaic for a large maternally derived deletion in the NF1 gene region. The deletion extends at least from exon 4 near the 5' end of the gene to intron 39 near the 3' end. The gene-coding region is, therefore, mostly or entirely deleted, encompassing a loss of > or = 100 kb. We hypothesize that the… CONTINUE READING

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