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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Dades bibliogràfiques
Publicat a:Kidney Int Rep
Autors principals: Kamura, Misato, Yamamura, Tomohiko, Omachi, Kohei, Suico, Mary Ann, Nozu, Kandai, Kaseda, Shota, Kuwazuru, Jun, Shuto, Tsuyoshi, Iijima, Kazumoto, Kai, Hirofumi
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2020
Matèries:
Translational Research
Accés en línia: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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