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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Li, Yalin, Pan, Wei, Xu, Wanfeng, He, Nan, Chen, Xuewu, Liu, Hong, Darryl Quarles, L., Zhou, Honghao, Xiao, Zhousheng
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2009
Schlagworte:
Original Papers
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge