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A Novel Pattern of Mutation in Uromodulin Disorders: Autosomal Dominant Medullary Cystic Kidney Disease Type 2, Familial Juvenile Hyperuricemic Nephropathy, and Autosomal Dominant Glomerulocystic Kidney Disease

✍ Scribed by Xosé M. Lens; Julio F. Banet; Patricia Outeda; Vicente Barrio-Lucía


Book ID
114467066
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
205 KB
Volume
46
Category
Article
ISSN
0272-6386

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Autosomal dominant polycystic kidney dis
✍ Rossetti, Sandro; Bresin, Elena; Restagno, Gabriella; Carbonara, Angelo; Corrà, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 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