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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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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2020
Konular:
Online Erişim: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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