通过靶向外显子组测序分析中国多囊肾病患者的突变情况。 - Suppr

Analysis of mutations in Chinese patients with polycystic kidney disease by targeted exome sequencing.

作者信息

Qin Kaili, Wang Qian, Qing Jianbo, Li Yaheng, Gong Hao, Zha Zhijian, Zhou Bingrui, Li Yafeng

机构信息

Department of Nephrology, Shanxi Provincial People's Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan 030012, China.

Shanxi Provincial Key Laboratory of Kidney Disease, Shanxi Provincial People's Hospital, Taiyuan 030012, China.

出版信息

Genes Dis. 2024 Feb 28;12(1):101246. doi: 10.1016/j.gendis.2024.101246. eCollection 2025 Jan.

DOI:10.1016/j.gendis.2024.101246

PMID:39430052

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11490921/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2e4/11490921/d233ca71c6da/gr1.jpg

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Analysis of mutations in Chinese patients with polycystic kidney disease by targeted exome sequencing.通过靶向外显子组测序分析中国多囊肾病患者的突变情况。

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本文引用的文献

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.PKD1 重复区域限制了全外显子组测序在常染色体显性遗传性多囊肾病基因诊断中的临床应用。

Sci Rep. 2019 Mar 11;9(1):4141. doi: 10.1038/s41598-019-40761-w.

Polycystic kidney disease.多囊肾病。

Nat Rev Dis Primers. 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y.

Polycystic Kidney Disease.多囊肾病

Compr Physiol. 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018.

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.使用高效的PKD1和PKD2靶向新一代测序技术诊断常染色体显性多囊肾病。

Mol Genet Genomic Med. 2014 Sep;2(5):412-21. doi: 10.1002/mgg3.82. Epub 2014 May 23.

A new equation to estimate glomerular filtration rate.一种估算肾小球滤过率的新公式。

Ann Intern Med. 2009 May 5;150(9):604-12. doi: 10.7326/0003-4819-150-9-200905050-00006.

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Analysis of mutations in Chinese patients with polycystic kidney disease by targeted exome sequencing.

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