Denaturing HPLC-based assay for detection of ATRX gene mutations

Clin Chem. 2005 Jul;51(7):1314-5. doi: 10.1373/clinchem.2005.052407.
No abstract available

Publication types

  • Letter

MeSH terms

  • Chromatography, High Pressure Liquid / methods
  • DNA Helicases / genetics*
  • Humans
  • Intellectual Disability / genetics
  • Mutation
  • Nuclear Proteins / genetics*
  • Polymerase Chain Reaction
  • Syndrome
  • X-linked Nuclear Protein
  • alpha-Thalassemia / genetics

Substances

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

Associated data

  • OMIM/300032
  • OMIM/301040