A RUNX2/PEBP2αA/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia
Cleidocranial dysplasia (CCD), an autosomal-dominant human bone disease, is thought to be caused by heterozygous mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer binding protein 2αA (PEBP2αA)/core-binding factor A1 (CBFA1). To understand the mechanism underlying the pathogenesis of CCD...
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| Gepubliceerd in: | Proc Natl Acad Sci U S A |
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| Hoofdauteurs: | , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
National Academy of Sciences
2000
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC27062/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10962029/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.180309597 |
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