Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome

INTRODUCTION: Alport syndrome is a hereditary glomerulonephritis that results from the disruption of collagen α345(IV) heterotrimerization caused by mutation in COL4A3, COL4A4 or COL4A5 genes. Many clinical studies have elucidated the correlation between genotype and phenotype, but there is still mu...

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Udgivet i:Kidney Int Rep
Main Authors: Kamura, Misato, Yamamura, Tomohiko, Omachi, Kohei, Suico, Mary Ann, Nozu, Kandai, Kaseda, Shota, Kuwazuru, Jun, Shuto, Tsuyoshi, Iijima, Kazumoto, Kai, Hirofumi
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2020
Fag:
Translational Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7210609/
https://ncbi.nlm.nih.gov/pubmed/32405592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ekir.2020.01.008
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