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

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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Bibliographic Details
Main Authors: Misato Kamura, Tomohiko Yamamura, Kohei Omachi, Mary Ann Suico, Kandai Nozu, Shota Kaseda, Jun Kuwazuru, Tsuyoshi Shuto, Kazumoto Iijima, Hirofumi Kai
Format: Article
Language:English
Published: Elsevier 2020-05-01
Series:Kidney International Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2468024920300292

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http://www.sciencedirect.com/science/article/pii/S2468024920300292

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