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

Research output: Contribution to journal › Letter › Contributed › peer-review

Contributors

  • O Bartsch - , Hereditary Cancer Syndrome Center (Author)
  • K Locher - , TUD Dresden University of Technology (Author)
  • P Meinecke - , Childrens Hospital Altonae (Author)
  • W Kress - , University of Würzburg (Author)
  • E Seemanová - , Charles University Prague (Author)
  • A Wagner - , Hereditary Cancer Syndrome Center (Author)
  • K Ostermann - , Chair of General Genetics (Author)
  • G Rödel - , Chair of General Genetics (Author)

Details

Original languageEnglish
Pages (from-to)496-501
Number of pages6
JournalJournal of medical genetics
Volume39
Issue number7
Publication statusPublished - Jul 2002
Peer-reviewedYes

External IDs

PubMed 12114483
PubMedCentral PMC1735164
Scopus 0036071347

Keywords

Keywords

  • 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, Protein Structure, Secondary/genetics, Rubinstein-Taybi Syndrome/diagnosis, Saccharomyces cerevisiae Proteins, Trans-Activators/chemistry