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Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome

Nephrology (Carlton, Vic.), Vol. 25, Issue 6, Pages 497-501, 2020

PMID: 31925849

Alport syndrome (AS) is an inherited disorder of basement membranes caused by mutations affecting specific proteins of the type IV collagen family, presenting with nephropathy and extrarenal manifestations such as sensorineural deafness and ocular anomalies.

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  https://www.ncbi.nlm.nih.gov/pubmed/31925849

 

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