Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant

BACKGROUND: Podocalyxin (PODXL) is a highly sialylated adhesion glycoprotein that plays an important role in podocyte's physiology. Recently, missense and nonsense dominant variants in the PODXL gene have been associated with focal segmental glomerulosclerosis (FSGS), a leading cause of nephrot...

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Detalles Bibliográficos
Autores principales: Marx, David, Caillard, Sophie, Olagne, Jérôme, Moulin, Bruno, Hannedouche, Thierry, Touchard, Guy, Dupuis, Arnaud, Gachet, Christian, Molitor, Anne, Bahram, Seiamak, Carapito, Raphael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172202/
https://www.ncbi.nlm.nih.gov/pubmed/33780168
http://dx.doi.org/10.1002/mgg3.1658

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