A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1)
✍ Scribed by Elena Bresin; Sandro Rossetti; Sabine Englisch; Stefano Corrà; Pier Franco Pignatti; Alberto E. Turco
- Book ID
- 115638148
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 202 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0890-8508
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## Paalman Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disorder (incidence, 1:1,000). The mutation of PKD1 is thought to account for 85% of ADPKD. Although a considerable number of studies on PKD1 mutation have been published recently, most of them concern Caucasi
## Communicated by Michel Goossens Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder mostly characterized by cyst formation in kidney tubules. The majority of ADPKD cases is caused by mutations in the PKD1 gene, but no prevalent mutation has been reported. By heteroduplex a