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

Genetic etiology in majority of patients with sporadic thoracic aortic aneurysm and dissections (STAAD) remains unknown. Recent GWAS study suggested common variant(s) in FBN1 is associated with STAAD. The present study aims to test this hypothesis and to identify mutation spectrum by targeted exome...

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Detalles Bibliográficos
Autores principales: Guo, Jun, Cai, Lun, Jia, Lixin, Li, Xiaoyan, Xi, Xin, Zheng, Shuai, Liu, Xuxia, Piao, Chunmei, Liu, Tingting, Sun, Zhongsheng, Cai, Tao, Du, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536522/
https://www.ncbi.nlm.nih.gov/pubmed/26272055
http://dx.doi.org/10.1038/srep13115

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536522/
https://www.ncbi.nlm.nih.gov/pubmed/26272055
http://dx.doi.org/10.1038/srep13115

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