Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

BACKGROUND: Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X‐linked ATS) and in two autosomal genes, COL4A4 and COL4A3, responsible of both recessive ATS and, wh...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Uliana, Vera, Sebastio, Paola, Riva, Matteo, Carli, Diana, Ruberto, Claudio, Bianchi, Laura, Graziano, Claudio, Capelli, Irene, Faletra, Flavio, Pillon, Roberto, Mattina, Teresa, Sensi, Alberto, Bonatti, Francesco, Percesepe, Antonio
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8077073/
https://ncbi.nlm.nih.gov/pubmed/33369211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1576
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