Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome
β Scribed by Mester, Jessica; Eng, Charis
- Book ID
- 119969834
- Publisher
- Nature Publishing Group
- Year
- 2012
- Tongue
- English
- Weight
- 213 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1098-3600
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le
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