A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family

BACKGROUND: Glomerulopathy with fibronectin deposits is an autosomal dominant disease associated with proteinuria, hematuria, hypertension and renal function decline. Forty percent of the cases are caused by mutations in FN1, the gene that encodes fibronectin. CASE PRESENTATION: This report describe...

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Detalles Bibliográficos
Autores principales: dos Reis Monteiro, Maria Luíza Gonçalves, Custódio, Fabiano Bichuette, de Menezes Neves, Precil Diego Miranda, Ferreira, Frederico Moraes, Watanabe, Elieser Hitoshi, Lerário, Antônio Marcondes, de Araújo, Liliane Silvano, Balbo, Bruno Eduardo Pedroso, Pinto, Vívian Christine Dourado, Barbosa, Lívia Maria Gruli, de Paiva Marques, Vilmar, Machado, Juliana Reis, Reis, Marlene Antônia, Onuchic, Luiz Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697944/
https://www.ncbi.nlm.nih.gov/pubmed/31419955
http://dx.doi.org/10.1186/s12882-019-1507-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697944/
https://www.ncbi.nlm.nih.gov/pubmed/31419955
http://dx.doi.org/10.1186/s12882-019-1507-7

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