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PKD and CF: An interesting family provides insight into the molecular pathophysiology of polycystic kidney disease

✍ Scribed by CU Cotton; ED Avner


Book ID
117444205
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
22 KB
Volume
32
Category
Article
ISSN
0272-6386

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πŸ“œ SIMILAR VOLUMES


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