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Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population

As a rare type of Congenital Heart Defects (CHD), the genetic mechanism of Total Anomalous Pulmonary Venous Return (TAPVR) remains unknown, although previous studies have revealed potential disease-driving regions/genes. Blood samples collected from the 6 sporadic TAPVR cases and 81 non-TAPVR contro...

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Detalles Bibliográficos
Autores principales: Li, Jun, Yang, Shiwei, Pu, Zhening, Dai, Juncheng, Jiang, Tao, Du, Fangzhi, Jiang, Zhu, Cheng, Yue, Dai, Genyin, Wang, Jun, Qi, Jirong, Cao, Liming, Cheng, Xueying, Ren, Cong, Li, Xinli, Qin, Yuming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438610/
https://www.ncbi.nlm.nih.gov/pubmed/28412737
http://dx.doi.org/10.18632/oncotarget.15434