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

Abstract excerpt

INTRODUCTION: genes. Many clinical studies have elucidated the correlation between genotype and phenotype, but there is still much ambiguity and insufficiency. Here, we focused on the α345(IV) heterotrimerization of α5(IV) missense mutant as a novel factor to further understand the pathophysiology of Alport syndrome. METHODS: We selected 9 α5(IV) missense mutants with typical glycine substitutions that clinically...

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