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
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.
Günthner R et al.
Frontiers in Medicine, 2022
36341250 (PubMed )
Supplement: Data_Sheet_1.PDF
Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.
Zhao X et al.
Molecular Genetics & Genomic Medicine, 2019
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
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