XNP Mutation in a Large Family With Juberg-Marsidi Syndrome

Nat Genet. 1996 Apr;12(4):359-60. doi: 10.1038/ng0496-359.

Publication types

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

MeSH terms

  • Alleles
  • Base Sequence
  • Chromosome Mapping
  • DNA Helicases*
  • DNA Primers / genetics
  • Female
  • Genetic Linkage
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Syndrome
  • X Chromosome / genetics
  • X-linked Nuclear Protein
  • alpha-Thalassemia / genetics

Substances

  • DNA Primers
  • Nuclear Proteins
  • DNA Helicases
  • ATRX protein, human
  • X-linked Nuclear Protein