Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD-Reference-Cited by-同舟云学术

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Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD

Published:2015-08-14 Issue:1 Volume:5 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Guo Jun,Cai Lun,Jia Lixin,Li Xiaoyan,Xi Xin,Zheng Shuai,Liu Xuxia,Piao Chunmei,Liu Tingting,Sun Zhongsheng,Cai Tao,Du Jie

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep13115.pdf

Reference52 articles.

1. Lindsay, M. E. & Dietz, H. C. Lessons on the pathogenesis of aneurysm from heritable conditions. Nature 473, 308–316 (2011).

2. Mizuguchi, T. et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36, 855–860 (2004).

3. Loeys, B. L. et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37, 275–281 (2005).

4. Boileau, C. et al. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet 44, 916–921 (2012).

5. Doyle, A. J. et al. Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet 44, 1249–1254 (2012).

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