Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. [electronic resource]
Producer: 20020905Description: 496-501 p. digitalISSN:- 1468-6244
- 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
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Publication Type: Case Reports; Letter
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