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A novel mutation, P126R, in a Japanese patient with HHH syndrome

✍ Scribed by Takeshi Miyamoto; Naomi Kanazawa; Chiemi Hayakawa; Seiichi Tsujino


Book ID
117590961
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
93 KB
Volume
26
Category
Article
ISSN
0887-8994

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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