Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis

Abstract Congenital heart defects, one of the most common birth defects, affect approximately 1% of live birth globally and remain the leading cause of infant mortality in developed countries. Utilizing the pathogenicity score and inheritance mode from whole exome sequencing results, a heterozygous...

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Autores principales: Cuilan Hou, Junmin Zheng, Wei liu, Lijian Xie, Xiaomin Sun, Yongwei Zhang, Meng Xu, Yun Li, Tingting Xiao
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/466dd8c586fc48849f1138dc511088cb
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