Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?

Am J Med Genet A. 2004 Feb 1;124A(4):413-5. doi: 10.1002/ajmg.a.20401.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Base Sequence
  • Chromosomes, Human, X / genetics
  • Humans
  • Male
  • Membrane Proteins
  • Mental Retardation, X-Linked / etiology
  • Mental Retardation, X-Linked / genetics*
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Point Mutation*
  • Polymorphism, Genetic
  • Tetraspanins

Substances

  • Membrane Proteins
  • Nerve Tissue Proteins
  • TSPAN7 protein, human
  • Tetraspanins