The Mutation, a Key Determinant of Phenotype in ADPKD
Authors:
- 1 June 2013
- journal article
- Published by Wolters Kluwer Health in Journal of the American Society of Nephrology
- Vol. 24 (6) , 868-870
Abstract
No abstract availableThis publication has 16 references indexed in Scilit:
- Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severityJournal of Clinical Investigation, 2012
- A missense mutation in PKD1 attenuates the severity of renal diseaseKidney International, 2012
- Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomyJournal of Medical Genetics, 2011
- Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney DiseaseJournal of the American Society of Nephrology, 2011
- Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKDJournal of the American Society of Nephrology, 2010
- Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney diseaseKidney International, 2009
- Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney DiseaseJournal of the American Society of Nephrology, 2007
- Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotypeThe Lancet, 2003
- The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal DiseaseJournal of the American Society of Nephrology, 2002
- Comparison of phenotypes of polycystic kidney disease types 1 and 2The Lancet, 1999