Article
Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jan 1996
Turco A E, Rossetti S, Bresin E, Corrà S, Restagno G, Carbonara A, De Prisco O, Gammaro L, Maschio G, Pignatti P F
Abstract excerpt
Sixty-seven Italian patients with autosomal dominant polycystic kidney disease (ADPKD) were screened for mutations in the PKD1 gene. We used PCR, heteroduplex and single-strand conformation polymorphism DNA analysis, and automated DNA sequencing for exons 35, 36, 38, 44 and 45. We detected abnorm...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.