Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree

Hum Mutat. 1998:Suppl 1:S240-1. doi: 10.1002/humu.1380110177.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing / genetics*
  • Child
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Family Health
  • Female
  • Humans
  • Hydrocephalus / genetics*
  • Leukocyte L1 Antigen Complex
  • Male
  • Membrane Glycoproteins / genetics*
  • Neural Cell Adhesion Molecules / genetics*
  • Paraplegia / genetics*
  • Pedigree
  • Point Mutation
  • Sequence Deletion
  • Venezuela

Substances

  • DNA, Complementary
  • Leukocyte L1 Antigen Complex
  • Membrane Glycoproteins
  • Neural Cell Adhesion Molecules