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Article

Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport syndrome

14 Jan 2025

Abstract excerpt

BACKGROUND: Unlike X-linked or autosomal recessive Alport syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients carrying a single variant of COL4A3 or COL4A4. METHODS: We carried out a multicentre retrospective study to assess the risk factors involved in renal survival in patients presenting a single pathogenic variant on COL4A3 or COL4A4. RESULTS: A total of 97 patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39810285
DOI: 10.1093/ndt/gfaf011

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