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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Detalhes bibliográficos
Main Authors: Li, Yalin, Pan, Wei, Xu, Wanfeng, He, Nan, Chen, Xuewu, Liu, Hong, Darryl Quarles, L., Zhou, Honghao, Xiao, Zhousheng
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2009
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Original Papers
Acesso em linha: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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