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Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families

✍ Scribed by Marie McCluskey; Tina Schiavello; Michael Hunter; Janina Hantke; Dora Angelicheva; Nadja Bogdanova; Arseni Markoff; Mark Thomas; Bernd Dworniczak; Juergen Horst; Luba Kalaydjieva


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
424 KB
Volume
19
Category
Article
ISSN
1059-7794

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Since identification of the genes mutated in patients with Autosomal Dominant Polycystic Kidney Disease, PKD1 and PKD2, a large number of different germ line mutations in both genes have been found by conventional PCR-based mutation detection methods. Nevertheless, in approximately 40% of the PKD1 f

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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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## 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