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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Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2020
Sujets:
Original Articles
Accès en ligne: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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