Associated Papers
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
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
Lucas SEM et al.
Plos One, 2018
29924831 (PubMed )
Supplement: pone.0199178.s003.xlsx › Sheet1
COL4A6 is dispensable for autosomal recessive Alport syndrome.
Murata T et al.
Scientific Reports, 2016
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
Storey H et al.
Journal of the American Society of Nephrology : Jasn, 2013
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