A founder mutation in EHD1 presents with tubular proteinuria and deafness
(2022)
Journal Article
Russell, C., Issler, N., Afonso, S., Ziegler, C., Weissman, . I., Dumitriu, S., …Schilling, A. (in press). A founder mutation in EHD1 presents with tubular proteinuria and deafness. Journal of the American Society of Nephrology,
Background: The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors and cargo are incompletely unders... Read More about A founder mutation in EHD1 presents with tubular proteinuria and deafness.