Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from café au laitmacules of NF1 patients.

@article{Eisenbarth1997EvidenceFT,
  title={Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from caf{\'e} au laitmacules of NF1 patients.},
  author={Ingrid Eisenbarth and Guenter Assum and Dieter H Kaufmann and Winfrid Krone},
  journal={Biochemical and biophysical research communications},
  year={1997},
  volume={237 1},
  pages={138-41}
}
Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disorder caused by mutations in the NF1 gene on 17q11.2. Melanocytes cultured from cafe au lait macules (CALM) of patients with NF1 were analysed for loss of heterozygosity (LOH) at the NF1 locus using a 3'-flanking and four intragenic markers. None of the informative samples showed LOH. In addition, the X-inactivation pattern of melanocytes from CALM (n = 4) and from the unaffected skin of the patients (n = 3) suggests a… CONTINUE READING