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

被引：0

作者：

Tiziana Vaisitti

Monica Sorbini

Martina Callegari

Silvia Kalantari

Valeria Bracciamà

Francesca Arruga

Silvia Bruna Vanzino

Sabina Rendine

Gabriele Togliatto

Daniela Giachino

Alessandra Pelle

Enrico Cocchi

Chiara Benvenuta

Simone Baldovino

Cristiana Rollino

Roberta Fenoglio

Savino Sciascia

Michela Tamagnone

Corrado Vitale

Giovanni Calabrese

Luigi Biancone

Stefania Bussolino

Silvana Savoldi

Maurizio Borzumati

Vincenzo Cantaluppi

Fabio Chiappero

Silvana Ungari

Licia Peruzzi

Dario Roccatello

Antonio Amoroso

Silvia Deaglio

机构：

[1] University of Turin,Department of Medical Sciences

[2] Città della Salute e della Scienza University Hospital,Immunogenetics and Transplant Biology Service

[3] San Luigi Gonzaga University Hospital,Service of Genetic Counseling

[4] University of Turin,Department of Clinical and Biological Sciences

[5] Città della Salute e della Scienza University Hospital,Pediatric Nephrology Dialysis and Transplantation Unit

[6] San Giovanni Bosco Hospital,Nephrology and Dialysis Unit (ERKnet Member)

[7] Nephrology and Dialysis Unit ASL CN1,CMID, Center of Research of Immunopathology and Rare Diseases

[8] Ordine Mauriziano di Torino,Nephrology and Dialysis Unit

[9] Nephrology and Dialysis Unit ASL AL,Renal Transplantation Unit ‘A. Vercellone,’ Division of Nephrology Dialysis and Transplantation

[10] Città della Salute e della Scienza University Hospital,Nephrology and Dialysis Unit of Verbania ASL VCO

[11] Nephrology and Dialysis Unit ASL TO4,Nephrology and Kidney Transplantation Unit

[12] Verbano Cusio Ossola,undefined

[13] Maggiore Della Carità University Hospital,undefined

[14] Nephrology and Dialysis Unit ASL TO3,undefined

[15] Struttura Semplice Genetics and Molecular Biology,undefined

[16] ASL CN1,undefined

来源：

Journal of Nephrology | 2021年 / 34卷

关键词：

Next-generation sequencing; Chronic kidney failure; Transplantation; Renal monogenic disease;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：1767 / 1781

页数：14

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