Klinické důsledky mutací genu CBP
Title in English | Clinical consequence of CBP gene mutation |
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Authors | |
Year of publication | 1999 |
Type | Article in Periodical |
Magazine / Source | Časopis lékařů českých |
MU Faculty or unit | |
Citation | |
Field | Genetics and molecular biology |
Keywords | CBP |
Description | CBP is transcriptional coactivator that can interact with many transcription factors. It modifies the process of transcription stimulated by these factors by specific binding to RNA polymerase II holoenzyme or by histone acetylation. CBP gene mutation is the molecular cause of autosomal dominant genetic disease called Rubinstein-Taybi syndrome. |
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