A five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis (NF1) exon 39

Hum Mutat. 1997;9(5):473. doi: 10.1002/(SICI)1098-1004(1997)9:5<473::AID-HUMU15>3.0.CO;2-#.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Base Composition
  • Child
  • Exons*
  • Female
  • Genes, Neurofibromatosis 1*
  • Humans
  • Neurofibromatosis 1 / genetics*
  • Polymerase Chain Reaction
  • Sequence Deletion