Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience

BACKGROUND: A considerable minority of patients on waiting lists for kidney transplantation either have no diagnosis (and fall into the subset of undiagnosed cases) because kidney biopsy was not performed or histological findings were non-specific, or do not fall into any well-defined clinical categ...

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Detalles Bibliográficos
Autores principales: Vaisitti, Tiziana, Sorbini, Monica, Callegari, Martina, Kalantari, Silvia, Bracciamà, Valeria, Arruga, Francesca, Vanzino, Silvia Bruna, Rendine, Sabina, Togliatto, Gabriele, Giachino, Daniela, Pelle, Alessandra, Cocchi, Enrico, Benvenuta, Chiara, Baldovino, Simone, Rollino, Cristiana, Fenoglio, Roberta, Sciascia, Savino, Tamagnone, Michela, Vitale, Corrado, Calabrese, Giovanni, Biancone, Luigi, Bussolino, Stefania, Savoldi, Silvana, Borzumati, Maurizio, Cantaluppi, Vincenzo, Chiappero, Fabio, Ungari, Silvana, Peruzzi, Licia, Roccatello, Dario, Amoroso, Antonio, Deaglio, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8494711/
https://www.ncbi.nlm.nih.gov/pubmed/33226606
http://dx.doi.org/10.1007/s40620-020-00898-8

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