Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference8 articles.
1. Functional alterations due to amino acids changes and evolutionary comparative analysis of ARPKD and ADPKD genes;Edrees;Genom Data,2016
2. Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease;Obeidova;BMC Med Genet,2015
3. Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract;Vivante;J Am Soc Nephrol,2017
4. Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies;Szabó;Pediatr Nephrol,2018
5. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis;Gunay-Aygun;Mol Genet Metab,2010
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