A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)

Nat Genet. 1993 Aug;4(4):331. doi: 10.1038/ng0893-331.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Sequence
  • Cysteine
  • Female
  • Humans
  • Hydrocephalus / genetics*
  • Leukocyte L1 Antigen Complex
  • Male
  • Membrane Glycoproteins / genetics*
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • X Chromosome*

Substances

  • Leukocyte L1 Antigen Complex
  • Membrane Glycoproteins
  • Cysteine