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RUNX2 mutations in Chinese patients with cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant bone disease in humans caused by haploinsufficiency of the RUNX2 gene. The RUNX2 has two major isoforms derived from P1 and P2 promoters. Over 90 mutations of RUNX2 have been reported associated with CCD. In our study, DNA samples of nine indivi...
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| Hlavní autoři: | , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2009
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2734498/ https://ncbi.nlm.nih.gov/pubmed/19515746 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/mutage/gep025 |
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