Article
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
Human mutation - 1 Mar 2002
McCluskey Marie, Schiavello Tina, Hunter Michael, Hantke Janina, Angelicheva Dora, Bogdanova Nadja, Markoff Arseni, Thomas Mark, Dworniczak Bernd, Horst Juergen, Kalaydjieva Luba
Abstract excerpt
Screening for disease-causing mutations in the duplicated region of the PKD1 gene was performed in 17 unrelated Australian individuals with PKD1-linked autosomal dominant polycystic kidney disease. Exons 2-21 and 23-34 were assayed using PKD1-specific PCR amplification and direct sequencing. We have identified 12 novel probably pathogenic DNA variants, including five truncating mutations (Q563X, c.5105delAT,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.