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Novel mutations of theATP2A2gene in two families with Darier’s disease

✍ Scribed by Bing-Jun Shi; Jie Feng; Cui-Cui Ma; Xiao-Ning Yan; Wen-Bin Li; Yu-Ping Wei; Gang Hu; Xiang-Lan Wang

Publisher: Springer-Verlag
Year: 2008
Tongue: English
Weight: 339 KB
Volume: 301
Category: Article
ISSN: 0340-3696
DOI: 10.1007/s00403-008-0910-x

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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