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Novel and recurrent mutations in thePKD1(Polycystic Kidney disease) gene

✍ Scribed by C. Daniells; Magitha Maheshwar; Lazarus Lazarou; Felicity Davies; Gerry Coles; David Ravine


Publisher
Springer
Year
1998
Tongue
English
Weight
42 KB
Volume
102
Category
Article
ISSN
0340-6717

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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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Autosomal dominant polycystic kidney disease (ADPKD) is an inherited nephropathy, usually of late onset (onset between third to seventh decade), primarily characterized by the formation of fluid-filled cysts in the kidneys. It is one of the most frequent inherited conditions affecting approximately

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## Summary The aim of this study was to identify possible disease‐associated mutations in the canine homologue of the polycystic kidney disease gene 1 (__PKD1__) in Bull Terriers with autosomal dominant polycystic kidney disease. Messenger RNA was obtained from the blood or renal tissue of five Bul