## 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
A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease
โ Scribed by Vega, Ana; Torres, Josema; Torres, Maria; Cameselle-teijeiro, Jose; Macia, Manuel; Carracedo, Angel; Pulido, Rafael
- Book ID
- 109065041
- Publisher
- Nature Publishing Group
- Year
- 2003
- Tongue
- English
- Weight
- 177 KB
- Volume
- 121
- Category
- Article
- ISSN
- 0022-202X
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We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous T-to-C transition results in the replacement of a highly conserved tryptophan at amino acid position (aa) 797 with an arginine in the C-terminal domain of the PYGM
Cowden disease (CD) is a rare, autosomal dominant inherited cancer syndrome characterized by multiple benign and malignant lesions in a wide spectrum of tissues. While individuals with CD have an increased risk of breast and thyroid neoplasms, the primary features of CD are hamartomas. The gene for