Identification of Mutations in the Duplicated Region of the Polycystic Kidney Disease 1 Gene (PKD1) by a Novel Approach

1997/06/01 by Belén Peral, Vicki Gamble, Carol Strong +7 · 16 citations
Biochemistry, Genetics and Molecular Biology · #Genetic and Kidney Cyst Diseases #Renal and related cancers #Genetic Syndromes and Imprinting

paper · pdf · doi:10.1086/515467

Cited by

• Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP). [europepmc]
• PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease. [europepmc]
• Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. [europepmc]
• Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. [europepmc]
• Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease. [europepmc]
• Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. [europepmc]
• New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease. [europepmc]
• An ELISA-based high throughput protein truncation test for inherited breast cancer. [europepmc]
• High Resolution Melt analysis for mutation screening in PKD1 and PKD2. [europepmc]
• Population data improves variant interpretation in autosomal dominant polycystic kidney disease. [europepmc]
• A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report. [europepmc]
• Recent advances in the clinical management of autosomal dominant polycystic kidney disease. [europepmc]
• Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease. [europepmc]
• Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD. [europepmc]
• Mutation detection in the repeated part of the PKD1 gene. [europepmc]
• "Mistakes happen": somatic mutation and disease. [europepmc]