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Identification of Mutations in the Repeated Part of the Autosomal Dominant Polycystic Kidney Disease Type 1 Gene, PKD1, by Long-Range PCR

✍ Scribed by Ruth Thomas; Robert McConnell; Jo Whittacker; Peter Kirkpatrick; John Bradley; Richard Sandford


Book ID
117852893
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
273 KB
Volume
65
Category
Article
ISSN
0002-9297

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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