TY  - GEN
AU  - Melean,German
AU  - Velasco,Ana
AU  - Hernández-Imaz,Elisabete
AU  - Rodríguez-Álvarez,Francisco Javier
AU  - Martín,Yolanda
AU  - Valero,Ana
AU  - Hernández-Chico,Concepción
TI  - RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas
SN  - 1364-6753
PY  - 2013///0111
KW  - Adult
KW  - Child
KW  - Chromosomal Proteins, Non-Histone
KW  - genetics
KW  - DNA-Binding Proteins
KW  - Female
KW  - Germ-Line Mutation
KW  - Humans
KW  - Infant, Newborn
KW  - Magnetic Resonance Imaging
KW  - methods
KW  - Male
KW  - Meningeal Neoplasms
KW  - Meningioma
KW  - Models, Genetic
KW  - Mutation
KW  - Neurilemmoma
KW  - Neurofibromatoses
KW  - Pedigree
KW  - Protein Isoforms
KW  - RNA
KW  - metabolism
KW  - RNA Splicing
KW  - RNA, Messenger
KW  - SMARCB1 Protein
KW  - Skin Neoplasms
KW  - Tomography, X-Ray Computed
KW  - Transcription Factors
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10048-012-0335-8
ER  -