Associated Papers
Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.
Huang Y et al.
Renal Failure, 2025
41087309 (PubMed )
Supplement: IRNF_A_2570072_SM8037.xlsx › Sheet1
Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport syndrome.
Pagniez MS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
39810285 (PubMed )
Supplement: gfaf011_supplemental_files.zip › Supplementary_Tables_S1S2S3_pdf.pdf
COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.
Krüger BM et al.
Kidney International Reports, 2025
40485705 (PubMed )
Supplement: mmc1.pdf
Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.
Halat-Wolska P et al.
Genes, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.
Wang D et al.
Bmc Medical Genomics, 2024
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
36938085 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.
Yuan X et al.
Journal of the American Society of Nephrology : Jasn, 2023
New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.
García-Aznar JM et al.
Journal of Clinical Medicine, 2022
36013122 (PubMed )
Supplement: jcm-11-04883-s001.zip › jcm-1756647-supplementary.pdf
Identification of COL4A4 variants in Chinese patients with familial hematuria.
Gao Y et al.
Frontiers in Genetics, 2022
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
Weber S et al.
Pediatric Nephrology (berlin, Germany), 2016
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