A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference27 articles.
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3. Alport syndrome: Deducing the mode of inheritance from the presence of haematuria in family members;Savige;Pediatr Nephrol,2020
4. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: Refining the ACMG criteria;Savige;Eur J Hum Genet,2021
5. 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
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1. Tauroursodeoxycholic acid ameliorates renal injury induced by COL4A3 mutation;Kidney International;2024-05
2. Quantitative assessment of glomerular basement membrane collagen IV α chains in paraffin sections from patients with focal segmental glomerulosclerosis and Alport gene variants;Kidney International;2024-05
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