Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

Am J Med Genet A. 2005 May 15;135(1):103-5. doi: 10.1002/ajmg.a.30637.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Proteins
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • De Lange Syndrome / genetics*
  • De Lange Syndrome / pathology
  • Humans
  • Mutation*
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic / genetics
  • Proteins / genetics*

Substances

  • Cell Cycle Proteins
  • NIPBL protein, human
  • Proteins
  • DNA