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Familial Focal Segmental Glomerulosclerosis With Late-Onset Presentation and R229Q/R291W Podocin Mutations

INTRODUCTION: Pathogenic variants in different genes have been described as involved in the development of familial focal segmental glomerulosclerosis (FSGS). A more precise genotype–phenotype correlation would be helpful to better characterize the clinical and laboratorial manifestations of this di...

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Publicat a:Front Genet
Autors principals: Riguetti, Michelle T. P., Varela, Patrícia, Fernandes, Danilo E., Polito, M. Goretti, Casimiro, Fernanda M., Pesquero, João B., Mastroianni-Kirsztajn, Gianna
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7525155/
https://ncbi.nlm.nih.gov/pubmed/33193607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.533373
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