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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

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## 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

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