Associated Papers
A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.
Yavas C et al.
Molecular Syndromology, 2024
Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.
Papazachariou L et al.
Plos One, 2014
Advances in Alport syndrome diagnosis using next-generation sequencing.
Artuso R et al.
European Journal of Human Genetics : Ejhg, 2012
Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.
Rana K et al.
Pediatric Nephrology (berlin, Germany), 2007
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