Browsing by Subject "Polymorphism, Single-Stranded Conformational"
Now showing items 1-6 of 6
-
Article
Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease
(1996)Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of the gene, we started a search for ...
-
Article
Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease
(2000)Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by mutations in PKD1 and PKD2, respectively, are very ...
-
Article
Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease
(1999)Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for ~85% of cases whereas PKD2 on chromosome 4 accounts for ~15%. Mutations in the PKD3 gene ...
-
Article
Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1
(1998)Loss of heterozygosity (LOH) is a molecular phenomenon that denotes the loss of one of the two alleles at a specific locus. It is frequently associated with tumour suppressor genes in various cancers and also with ...
-
Article
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families
(2001)The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1: 1000 individuals of the Caucasian population. The main symptom is the ...
-
Article
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
(1996)A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid ...