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
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
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L et al.
Human Genomics, 2023
Mutation Analysis of Thin Basement Membrane Nephropathy.
Hirabayashi Y et al.
Genes, 2022
36292665 (PubMed )
Supplement: genes-13-01779-s001.zip › Table_S5.xlsx › 145_cases
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
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