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Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

AuthorsO Bartsch, K Locher, P Meinecke, W Kress, E Seemanová, A Wagner, K Ostermann, G Rödel
JournalJournal of medical genetics (J Med Genet) Vol. 39 Issue 7 Pg. 496-501 (Jul 2002) ISSN: 1468-6244 [Electronic] England
PMID12114483 (Publication Type: Case Reports, Letter)
Chemical References
  • Codon
  • Nuclear Proteins
  • Saccharomyces cerevisiae Proteins
  • Trans-Activators
  • DNA
  • Acetyltransferases
  • CREB-Binding Protein
  • CREBBP protein, human
  • Histone Acetyltransferases
Topics
  • Acetyltransferases (genetics)
  • Adolescent
  • Adult
  • CREB-Binding Protein
  • Child
  • Child, Preschool
  • Codon (genetics)
  • DNA (genetics)
  • DNA Mutational Analysis
  • Female
  • Genetic Variation (genetics)
  • Histone Acetyltransferases
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation, Missense (genetics)
  • Nuclear Proteins (chemistry, genetics)
  • Protein Structure, Secondary (genetics)
  • Rubinstein-Taybi Syndrome (diagnosis, genetics)
  • Saccharomyces cerevisiae Proteins
  • Trans-Activators (chemistry, genetics)

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