An EcoRI RFLP in the 5' region of the human NF1 gene

Hum Genet. 1993 Dec;92(6):631. doi: 10.1007/BF00420953.

Abstract

Von Recklinghausen neurofibromatosis or type 1 neurofibromatosis (NF1), is one of the most common autosomal dominant disorders. NF1 is characterized by neurofibromas, café-au-lait spots and Lisch nodules of the iris. The NF1 gene is located in 17q11.2. The restriction fragment length polymorphism reported here will be useful in linkage analysis in NF1 families.

MeSH terms

  • Alleles
  • Chromosomes, Human, Pair 17
  • Deoxyribonuclease EcoRI*
  • Humans
  • Neurofibromatosis 1 / genetics*
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length

Substances

  • Deoxyribonuclease EcoRI