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

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

Abstract 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...

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Bibliographic Details
Main Authors: Vera Uliana, Paola Sebastio, Matteo Riva, Diana Carli, Claudio Ruberto, Laura Bianchi, Claudio Graziano, Irene Capelli, Flavio Faletra, Roberto Pillon, Teresa Mattina, Alberto Sensi, Francesco Bonatti, Antonio Percesepe
Format: Article
Language:English
Published: Wiley 2021-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Alport syndrome
COL4A3
COL4A4 gene mutations
COL4A5
genotype/phenotype
Online Access:https://doi.org/10.1002/mgg3.1576

Internet

https://doi.org/10.1002/mgg3.1576

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