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A common mutation and a novel mutation in Japanese patients with van der Knaap disease

โœ Scribed by Seiichi Tsujino; Naomi Kanazawa; Hitoshi Yoneyama; Masayuki Shimono; Akihiro Kawakami; Yuuki Hatanaka; Teruo Shimizu; Hiroshi Oba


Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
342 KB
Volume
48
Category
Article
ISSN
1435-232X

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## Abstract Cowden disease (CD) is an autosomal dominant syndrome characterized by multiple hamartomatous lesions and an increased risk for malignancies. Recent evidence has indicated that the PTEN gene, encoding a protein tyrosine phosphatase, is the CD susceptibility gene. However, another line o