Authors | O Bartsch, K Locher, P Meinecke, W Kress, E Seemanová, A Wagner, K Ostermann, G Rödel |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 39
Issue 7
Pg. 496-501
(Jul 2002)
ISSN: 1468-6244 [Electronic] England |
PMID | 12114483
(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)
|