A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome

J Endocrinol Invest. 2007 Mar;30(3):263-5. doi: 10.1007/BF03347437.
No abstract available

Publication types

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

MeSH terms

  • Asian People / genetics*
  • DNA-Binding Proteins
  • Humans
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Nuclear Proteins / genetics*
  • Osteopoikilosis / genetics*
  • Pedigree
  • RNA Splice Sites / genetics*
  • Sequence Analysis, DNA / methods
  • Syndrome

Substances

  • DNA-Binding Proteins
  • LEMD3 protein, human
  • Membrane Proteins
  • Nuclear Proteins
  • RNA Splice Sites