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A Novel Mutation of the PKD2 Gene in a Japanese Patient With Autosomal Dominant Polycystic Kidney Disease and Complete Situs Inversus

✍ Scribed by Oka, Machiko; Mochizuki, Toshio; Kobayashi, Shuzo


Book ID
127366322
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
324 KB
Volume
64
Category
Article
ISSN
0272-6386

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## Communicated by Mark H. Paalman Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease caused by mutations in at least three different loci. Mutations in the PKD2 gene are responsible for approximately 15% of the cases of the disease. We have screened 14 Cze