Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families-Reference-Cited by-同舟云学术

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

Published:2020-05-07 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Mantovani Vilma,Bin Sofia,Graziano Claudio,Capelli Irene,Minardi Raffaella,Aiello Valeria,Ambrosini Enrico,Cristalli Carlotta Pia,Mattiaccio Alessandro,Pariali Milena,De Fanti Sara,Faletra Flavio,Grosso Enrico,Cantone Rachele,Mancini Elena,Mencarelli Francesca,Pasini Andrea,Wischmeijer Anita,Sciascia Nicola,Seri Marco,La Manna Gaetano

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

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4. Family history of renal disease severity predicts the mutated gene in ADPKD;Barua;J. Am. Soc. Nephrol,2009

5. Recent advances in the molecular diagnosis of polycystic kidney disease;Bergmann;Expert Rev. Mol. Diagn,2017

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