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本文引用的文献

1
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to Mutations.因突变导致常染色体显性遗传性肾小管间质性肾病患者终末期肾病发生年龄的遗传和临床预测因素
Kidney Int Rep. 2020 Jul 3;5(9):1472-1485. doi: 10.1016/j.ekir.2020.06.029. eCollection 2020 Sep.
2
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.由UMOD和MUC1突变引起的常染色体显性遗传性肾小管间质性肾病的临床和基因谱
Kidney Int. 2020 Sep;98(3):717-731. doi: 10.1016/j.kint.2020.04.038. Epub 2020 May 22.
3
CKD Due to a Novel Mitochondrial DNA Mutation: A Case Report.因新型线粒体 DNA 突变导致的慢性肾脏病：病例报告。
Am J Kidney Dis. 2019 Feb;73(2):273-277. doi: 10.1053/j.ajkd.2018.06.032. Epub 2018 Oct 8.
4
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.线粒体DNA突变导致肾小管间质性肾病。
PLoS Genet. 2017 Mar 7;13(3):e1006620. doi: 10.1371/journal.pgen.1006620. eCollection 2017 Mar.
5
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.基于质谱分析的黏蛋白-1肾病分子诊断检测方法的开发与验证
J Mol Diagn. 2016 Jul;18(4):566-71. doi: 10.1016/j.jmoldx.2016.03.003. Epub 2016 May 5.
6
Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.严重癫痫作为线粒体 tRNA（Phe）基因突变的主要症状。
Neurology. 2010 Feb 9;74(6):507-12. doi: 10.1212/WNL.0b013e3181cef7ab.
7
Juvenile nephronophthisis and medullary cystic disease--the same disease (report of a large family with medullary cystic disease associated with gout and epilepsy).青少年肾单位肾痨和髓质囊性病——同一种疾病（一个与痛风和癫痫相关的髓质囊性病大家族的报告）
Clin Nephrol. 1982 Jul;18(1):1-8.

Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement.

作者信息

Buglioni Alessia, Hasadsri Linda, Nasr Samih H, Hogan Marie C, Moyer Ann M, Siddique Khurrum, Kidd Kendrah, Kmoch Stanislav, Hodaňová Kateřina, Bleyer Anthony J, Alexander Mariam P

机构信息

Division of Anatomic Pathology, Mayo Clinic, Rochester, Minnesota, USA.

Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

出版信息

Kidney Int Rep. 2021 Jun 12;6(9):2514-2518. doi: 10.1016/j.ekir.2021.05.042. eCollection 2021 Sep.

DOI:10.1016/j.ekir.2021.05.042
PMID:34514217
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8418943/
Abstract
摘要