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...

詳細記述

保存先:
書誌詳細
出版年:Kidney Int Rep
主要な著者: Kamura, Misato, Yamamura, Tomohiko, Omachi, Kohei, Suico, Mary Ann, Nozu, Kandai, Kaseda, Shota, Kuwazuru, Jun, Shuto, Tsuyoshi, Iijima, Kazumoto, Kai, Hirofumi
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2020
主題:
Translational Research
オンライン･アクセス: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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