Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

J Med Genet. 2002 Jun;39(6):415-21. doi: 10.1136/jmg.39.6.415.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Blotting, Northern
  • Blotting, Southern
  • CREB-Binding Protein
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 16
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Nuclear Proteins / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • RNA, Messenger / analysis
  • Rubinstein-Taybi Syndrome / diagnosis
  • Rubinstein-Taybi Syndrome / genetics*
  • Sequence Deletion
  • Trans-Activators / genetics*

Substances

  • Nuclear Proteins
  • RNA, Messenger
  • Trans-Activators
  • CREB-Binding Protein
  • CREBBP protein, human

Associated data

  • GENBANK/AC004495
  • GENBANK/AC004509
  • GENBANK/AC004651
  • GENBANK/AC004760
  • GENBANK/AC005564
  • GENBANK/AC007151
  • GENBANK/U85962