Associated Papers
A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.
Li H et al.
Frontiers in Genetics, 2025
40567900 (PubMed )
Supplement: Table3.xlsx › Table_S3
Noninvasive genetic testing for type IV collagen nephropathy using oral mucosa DNA sampling in children with haematuria.
Liu J et al.
Renal Failure, 2024
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
Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.
Hadjipanagi D et al.
Genes, 2022
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
Gibson J et al.
Journal of the American Society of Nephrology : Jasn, 2021
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