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
Details
| Original language | English |
|---|---|
| Pages (from-to) | 496-501 |
| Number of pages | 6 |
| Journal | Journal of medical genetics |
| Volume | 39 |
| Issue number | 7 |
| Publication status | Published - Jul 2002 |
| Peer-reviewed | Yes |
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