Browsing by Subject "kidney polycystic disease"
Now showing items 21-25 of 25
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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 ...
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Article
Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families
(1996)Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. ...
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Article
Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
(2000)Mutations in the PKD1 gene account for approximately 85% of cases with autosomal dominant polycystic kidney disease (ADPKD1
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Article
A translation frameshift mutation induced by a cytosine insertion in the Polycystic Kidney Disease 2 gene (PKD2)
(1997)Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for ~ 15% of cases of polycystic kidney disease. Perhaps the only difference from the more common ADPKD1 cases is the rate of progression of cystic ...
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Article