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Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1)

✍ Scribed by Himmelbauer, Heinz; Pohlschmidt, Marita; Snarey, Angela; Germino, Gregory G.; Weinstat-Saslow, Debra; Somlo, Stefan; Reeders, Stephen T.; Frischauf, Anna-Maria


Book ID
122718902
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
851 KB
Volume
13
Category
Article
ISSN
0888-7543

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Large deletions in the polycystic kidney
✍ Yavuz Ariyurek; Irma Lantinga-van Leeuwen; Lia Spruit; David Ravine; Martijn H. πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 104 KB

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