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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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
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Original Articles
On-line přístup: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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