Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies

Mutations in COL4A3-A5 cause a spectrum of glomerular disorders, including thin basement membrane nephropathy (TBMN) and Alport syndrome (AS). The wide application of next-generation sequencing (NGS) in the last few years has revealed that mutations in these genes are not limited to these clinical e...

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Detalles Bibliográficos
Autores principales: Zacchia, Miriam, Capolongo, Giovanna, Del Vecchio Blanco, Francesca, Secondulfo, Floriana, Gupta, Neha, Blasio, Giancarlo, Pollastro, Rosa Maria, Cervesato, Angela, Piluso, Giulio, Gigliotti, Giuseppe, Torella, Annalaura, Nigro, Vincenzo, Perna, Alessandra F., Capasso, Giovambattista, Trepiccione, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048128/
https://www.ncbi.nlm.nih.gov/pubmed/36981034
http://dx.doi.org/10.3390/genes14030764

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048128/
https://www.ncbi.nlm.nih.gov/pubmed/36981034
http://dx.doi.org/10.3390/genes14030764

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