A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58

J Med Genet. 2002 Jun;39(6):430-3. doi: 10.1136/jmg.39.6.430.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • Genetic Linkage
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Membrane Proteins
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Sequence Deletion*
  • Tetraspanins
  • X Chromosome*

Substances

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