RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas. [electronic resource]
Producer: 20130111Description: 267-74 p. digitalISSN:- 1364-6753
- Adult
- Child
- Chromosomal Proteins, Non-Histone -- genetics
- DNA-Binding Proteins -- genetics
- Female
- Germ-Line Mutation
- Humans
- Infant, Newborn
- Magnetic Resonance Imaging -- methods
- Male
- Meningeal Neoplasms -- genetics
- Meningioma -- genetics
- Models, Genetic
- Mutation
- Neurilemmoma -- genetics
- Neurofibromatoses -- genetics
- Pedigree
- Protein Isoforms
- RNA -- metabolism
- RNA Splicing
- RNA, Messenger -- metabolism
- SMARCB1 Protein
- Skin Neoplasms -- genetics
- Tomography, X-Ray Computed -- methods
- Transcription Factors -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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