Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant?
- PMID: 30450445
- PMCID: PMC6224634
- DOI: 10.1016/j.ekir.2018.08.002
Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant?
References
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- Ciccarese M., Casu D., Ki Wong F. Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. Nephrol Dial Transplant. 2001;16:2008–2012. - PubMed
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- Pescucci C., Mari F., Longo I. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int. 2004;65:1598–1603. - PubMed
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