## 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
Novel germline mutation of thePTENgene in a Japanese family with Cowden disease
β Scribed by Naohiko Harada; Takashi Sugimura; Rie Yoshimura; Seiji Motomura; Shuya Shirahama; Jun-ichi Naramoto; Yoshiharu Chijiiwa; Kazuhiko Nakamura; Ken-ichi Ito; Hajime Nawata
- Publisher
- Springer Japan
- Year
- 2003
- Tongue
- English
- Weight
- 291 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0944-1174
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We studied the MEN1 gene in a kindred where three patients (the proposita and two of her sons) were affected with hyperparathyroidism. By polymerase chain reaction (PCR)-based direct sequencing of 10 exons of MEN1, a novel germline mutation was identified in the proposita. This mutation, a T-to-A tr
The enzyme deficiency causes the intralysosomal accumulation of glycosphingolipids. The affected hemizygotes manifest acroparethesis, angiokeratoma, hypohidrosis, corneal opacities, and progressive vascular diseases of the kidney, heart, and brain. The human a-Gal A cDNA (Bishop et al., 1986) and ge