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Genetic testing of 248 Chinese aortopathy patients using a panel assay

Inherited aortopathy, which is characterized by a high risk of fatal aortic aneurysms/dissections, can occur secondarily to several syndromes. To identify genetic mutations and help make a precise diagnosis, we designed a gene panel containing 15 genes responsible for inherited aortopathy and tested...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Yang, Hang, Luo, Mingyao, Fu, Yuanyuan, Cao, Yandong, Yin, Kunlun, Li, Wenke, Meng, Chunjie, Ma, Yanyun, Zhang, Jing, Fan, Yuxin, Shu, Chang, Chang, Qian, Zhou, Zhou
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5017237/
https://ncbi.nlm.nih.gov/pubmed/27611364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep33002
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