A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference42 articles.
1. Prevalence estimates of predicted pathogenic COL4A3-COL4A5 variants in a population sequencing database and their implications for Alport syndrome;Gibson;J Am Soc Nephrol,2021
2. Prevalence estimates of polycystic kidney and liver disease by population sequencing;Lanktree;J Am Soc Nephrol,2018
3. Identification of mutations in the COL4A5 collagen gene in Alport syndrome;Barker;Science,1990
4. Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome;Mochizuki;Nat Genet,1994
5. Mammalian collagen IV;Khoshnoodi;Microsc Res Tech,2008
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria;Clinica Chimica Acta;2024-02
2. Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene;Frontiers in Pediatrics;2023-08-10
3. Abnormal mRNA Splicing Effect of COL4A3 to COL4A5 Unclassified Variants;Kidney International Reports;2023-07
4. Genetic features and kidney morphological changes in women with X-linked Alport syndrome;Journal of Medical Genetics;2023-05-24
5. X-Linked Alport Syndrome in girls: Clinicopathology, Genotype-phenotype analysis and Diagnostic Advantage of a5(IV) chain Staining on Paraffin section;2023-05-17
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