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...
Main Authors: | Cuilan Hou, Junmin Zheng, Wei liu, Lijian Xie, Xiaomin Sun, Yongwei Zhang, Meng Xu, Yun Li, Tingting Xiao |
---|---|
Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2021-07-01
|
Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-021-93736-1 |
Similar Items
-
Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis
by: Kaori Sugiyama, et al.
Published: (2019-11-01) -
Generation of an induced pluripotent stem cell line from a Chinese Han child with arrhythmia
by: Cuilan Hou, et al.
Published: (2021-03-01) -
Elastin (ELN) gene point mutation in patients with inguinal hernia
by: Consuelo Junqueira Rodrigues, et al.
Published: (2006-01-01) -
The monitoring experience of a congenital heart disease patient with pulmonary artery stenosis and "sluggish skin" syndrome
by: Rakhima Mekenbayeva, et al.
Published: (2019-06-01) -
ELNES investigations of spinels
by: Docherty, Frances Therese
Published: (2001)