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α-Actinin-4-Mediated FSGS: An Inherited Kidney Disease Caused by an Aggregated and Rapidly Degraded Cytoskeletal Protein

Focal segmental glomerulosclerosis (FSGS) is a common pattern of renal injury, seen as both a primary disorder and as a consequence of underlying insults such as diabetes, HIV infection, and hypertension. Point mutations in theα-actinin-4 gene ACTN4 cause an autosomal dominant form of human FSGS. We...

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Autors principals: Yao, June, Le, Tu Cam, Kos, Claudine H, Henderson, Joel M, Allen, Phillip G, Denker, Bradley M, Pollak, Martin R
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2004
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC423141/
https://ncbi.nlm.nih.gov/pubmed/15208719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pbio.0020167
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