## 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
✦ LIBER ✦
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease
✍ Scribed by Alberto E. Turco; Sandro Rossetti; Elena Bresin; Sabine Englisch; Stefano Corrà; Pier Franco Pignatti
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 161 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
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Autosomal dominant polycystic kidney disease (ADPKD) occurs mainly from mutations of polycystic kidney disease 1 (PKD1) gene. A novel mutation of the PKD1 gene due to a nucleotide substitution in splice-acceptor site of IVS13 (AG->TG) was identified by analyses of PKD1-cDNA and genomic DNA. The IVS1