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
Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports.
Gao X et al.
Medicine, 2023
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
Gibson J et al.
Journal of the American Society of Nephrology : Jasn, 2021
A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family.
Xia L et al.
Disease Markers, 2019
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.
Uzak AS et al.
Genetic Testing and Molecular Biomarkers, 2013
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