Melean, German

RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas. [electronic resource] - Neurogenetics Aug 2012 - 267-74 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1364-6753

10.1007/s10048-012-0335-8 doi


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