A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

导出 LinkOut

翻译打印收藏纠错

作者： Sheng,Yi ^[1] ; Yue,Zhang ^[1] ; Zailong,Qin ^[1] ; Shang,Yi ^[1] ; Haiyang,Zheng ^[1] ; Jingsi,Luo ^[1] ; Qifei,Li ^[1] ; Jin,Wang ^[1] ; Qi,Yang ^[1] ; Mengting,Li ^[1] ; Fei,Chen ^[1] ; Qiang,Zhang ^[1] ; Qinle,Zhang ^[1] ; Yiping,Shen ^[1]

作者单位： Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. ^[1] Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China. ^[2] Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. ^[3] Department of Neurology, Harvard Medical School, Boston, MA, USA. ^[4]

关键词 KLHL40 Southern Chinese appendicular hypertonia nemaline myopathy 8 pathogenic variants

主题词基因频率(Gene Frequency);人类(Humans);婴儿, 新生(Infant, Newborn);男(雄)性(Male);肌蛋白质类(Muscle Proteins);突变, 误义(Mutation, Missense);肌病, 杆状体(Myopathies, Nemaline);表型(Phenotype);双生, 二卵(Twins, Dizygotic)

DOI 10.1002/mgg3.1683

PMID 33978323

发布时间 2022-01-31

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览2

Molecular genetics & genomic medicine

2021年9卷6期

e1683页

相似文献

中文期刊
外文期刊
学位论文
会议论文

检索历史清除

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

Molecular genetics & genomic medicine

相似文献

Molecular genetics & genomic medicine

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

Molecular genetics & genomic medicine

相似文献

Molecular genetics & genomic medicine

相关期刊

检索历史清除