A single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature.

导出 LinkOut

翻译打印收藏纠错

第一作者： Dan,Wang

第一单位： Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.;NHC Key Laboratory of Clinical Nephrology (Sun Yat-sen University) and Guangdong Provincial Key Laboratory of Nephrology, Sun Yat-sen University, Guangzhou, China.

作者： Dan,Wang ^[1] ; Xionghui,Chen ^[1] ; Qiong,Wen ^[1] ; Zhijian,Li ^[1] ; Wei,Chen ^[1] ; Wenfang,Chen ^[2] ; Xin,Wang ^[1]

作者单位： Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.;NHC Key Laboratory of Clinical Nephrology (Sun Yat-sen University) and Guangdong Provincial Key Laboratory of Nephrology, Sun Yat-sen University, Guangzhou, China. ^[1] Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.;Department of Pathology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China. ^[2]

关键词 TTC21B chronic kidney disease ciliopathy nephronophthisis

主题词儿童(Child);男(雄)性(Male);成年人(Adult);人类(Humans);密码子, 无义(Codon, Nonsense);肾功能衰竭, 慢性(Kidney Failure, Chronic);多囊肾疾病(Polycystic Kidney Diseases);蛋白尿(Proteinuria);肾炎, 间质性(Nephritis, Interstitial);纤维化(Fibrosis)

DOI 10.1002/mgg3.2076

PMID 36263627

发布时间 2023-01-10

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0

Molecular genetics & genomic medicine

2022年10卷12期

e2076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 single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature.

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 single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature.

Molecular genetics & genomic medicine

相似文献

Molecular genetics & genomic medicine

相关期刊

检索历史清除