Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta

Author:

Ciantar Natalie,Zahra Graziella,Delicata Julian,Sammut Fiona,Calleja-Agius Jean,Farrugia Emanuel,Said Edith

Publisher

Elsevier BV

Reference33 articles.

1. PKD1 truncating mutations accelerate eGFR decline in autosomal dominant polycystic kidney disease patients;Ali;Am. J. Nephrol.,2024

2. Genetic diagnosis of autosomal dominant polycystic kidney disease using multiplex-PCR;Buset Rios;[Diagnostico genetico de poliquistosis renal autosomica dominante mediante PCR multiple] Nefrologia: Publicacion Oficial De La Sociedad Espanola Nefrologia,2009

3. Deciphering variability of PKD1 and PKD2 in an Italian cohort of 643 patients with autosomal dominant polycystic kidney disease (ADPKD);Carrera;Sci. Rep.,2016

4. Exome sequencing of a clinical population for autosomal dominant polycystic kidney disease;Chang;JAMA,2022

5. Distribution and intensity of constraint in mammalian genomic sequence;Cooper;Genome Res.,2005

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