期刊
NATURE GENETICS
卷 43, 期 4, 页码 303-305出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.779
关键词
-
资金
- British Heart Foundation (BHF)
- Cure Kids New Zealand
- UK Department of Health via the National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre
- British Heart Foundation [RG/08/006/25302] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0507-10379] Funding Source: researchfish
We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据