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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Publicado en:Kidney Int Rep
Autores principales: Kamura, Misato, Yamamura, Tomohiko, Omachi, Kohei, Suico, Mary Ann, Nozu, Kandai, Kaseda, Shota, Kuwazuru, Jun, Shuto, Tsuyoshi, Iijima, Kazumoto, Kai, Hirofumi
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2020
Materias:
Translational Research
Acceso en línea: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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