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Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2)

✍ Scribed by Boucher, Catherine; Sandford, Richard


Book ID
110025570
Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
169 KB
Volume
12
Category
Article
ISSN
1018-4813

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Autosomal dominant polycystic kidney dis
✍ Rossetti, Sandro; Bresin, Elena; Restagno, Gabriella; Carbonara, Angelo; CorrΓ , πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 528 KB

Sixty-seven Italian patients with auto-soma1 dominant polycystic kidney disease (ADPKD) were screened for mutations in the 3' unique region of the PKDl gene, using heteroduplex DNA analysis. Novel aberrant bands were detected in 3 patients from the same family. DNA sequencing showed a C to T transit