Gitelman syndrome SLC12A3

NIAID Data Ecosystem2026-03-11 收录

Gitelman综合征基因突变

遗传性肾病分子诊断

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP272997 数据链接链接失效反馈

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资源简介：

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman's syndrome exhibiting Bartter's syndrome-liked phenotypes

创建时间：

2020-08-01

Thesis (Dr. med.) - Exome sequencing in hereditary nephropathies - Supplementary Table

遗传性肾病分子诊断

外显子组测序应用

Supplementary Table for the thesis (Dr. med.) "Exome sequencing in hereditary nephropathies" by Korbinian Maria Riedhammer, Institute of Human Genetics, Klinikum rechts der Isar, Technical University

NIAID Data Ecosystem90

Data_Sheet_1_Interpretation of Autosomal Recessive Kidney Diseases With “Presumed Homozygous” Pathogenic Variants Should Consider Technical Pitfalls.doc

遗传性肾病分子诊断

常染色体隐性遗传

Background: A false interpretation of homozygosity for pathogenic variants causing autosomal recessive disorders can lead to improper genetic counseling. The aim of this study was to demonstrate the u

NIAID Data Ecosystem40

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

遗传性肾病分子诊断

UMOD基因

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonl

Figshare2018-03-01 更新30

UMOD Mutations in Taiwan Chronic kidney Disease_1

遗传性肾病分子诊断

UMOD基因

Exome sequencing was performed in DY4, 5, and 10. A total of 28 variants, including UMOD c.179G>A (p.Gly60Asp), were shared among these three affected individuals after exome sequencing analysis. Bioi

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Novel mutations in COL4A3 , COL4A4 , and COL4A5 in Chinese patients with Alport Syndrome

遗传性肾病分子诊断

突变谱分析

Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3 , COL4A4 , and COL4A5 , which encode type IV collagen. The large sizes of the

NIAID Data Ecosystem40

Gitelman syndrome SLC12A3

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