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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Detalles Bibliográficos
Autores principales: Riguetti, Michelle T. P., Varela, Patrícia, Fernandes, Danilo E., Polito, M. Goretti, Casimiro, Fernanda M., Pesquero, João B., Mastroianni-Kirsztajn, Gianna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525155/
https://www.ncbi.nlm.nih.gov/pubmed/33193607
http://dx.doi.org/10.3389/fgene.2020.533373

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