Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing
Author:
Funder
National Institute of Diabetes and Digestive and Kidney Diseases
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference15 articles.
1. The role of alpha-actinin-4 in human kidney disease;D Feng;Cell & bioscience,2015
2. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis;JM Kaplan;Nature genetics,2000
3. Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis;A Weins;Journal of the American Society of Nephrology: JASN,2005
4. Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism;HJ Choi;American journal of kidney diseases: the official journal of the National Kidney Foundation,2008
5. Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein;J Yao;PLoS biology,2004
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