The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome

por Macheroux, Eva Pauline, Braunisch, Matthias C., Pucci Pegler, Stephanie, Satanovskij, Robin, Riedhammer, Korbinian M., Günthner, Roman, Gross, Oliver, Nagel, Mato, Renders, Lutz, Hoefele, Julia
Publicado 2019