000 01882 a2200565 4500
005 20250516101206.0
264 0 _c20130111
008 201301s 0 0 eng d
022 _a1364-6753
024 7 _a10.1007/s10048-012-0335-8
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMelean, German
245 0 0 _aRNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.
_h[electronic resource]
260 _bNeurogenetics
_cAug 2012
300 _a267-74 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aChild
650 0 4 _aChromosomal Proteins, Non-Histone
_xgenetics
650 0 4 _aDNA-Binding Proteins
_xgenetics
650 0 4 _aFemale
650 0 4 _aGerm-Line Mutation
650 0 4 _aHumans
650 0 4 _aInfant, Newborn
650 0 4 _aMagnetic Resonance Imaging
_xmethods
650 0 4 _aMale
650 0 4 _aMeningeal Neoplasms
_xgenetics
650 0 4 _aMeningioma
_xgenetics
650 0 4 _aModels, Genetic
650 0 4 _aMutation
650 0 4 _aNeurilemmoma
_xgenetics
650 0 4 _aNeurofibromatoses
_xgenetics
650 0 4 _aPedigree
650 0 4 _aProtein Isoforms
650 0 4 _aRNA
_xmetabolism
650 0 4 _aRNA Splicing
650 0 4 _aRNA, Messenger
_xmetabolism
650 0 4 _aSMARCB1 Protein
650 0 4 _aSkin Neoplasms
_xgenetics
650 0 4 _aTomography, X-Ray Computed
_xmethods
650 0 4 _aTranscription Factors
_xgenetics
700 1 _aVelasco, Ana
700 1 _aHernández-Imaz, Elisabete
700 1 _aRodríguez-Álvarez, Francisco Javier
700 1 _aMartín, Yolanda
700 1 _aValero, Ana
700 1 _aHernández-Chico, Concepción
773 0 _tNeurogenetics
_gvol. 13
_gno. 3
_gp. 267-74
856 4 0 _uhttps://doi.org/10.1007/s10048-012-0335-8
_zAvailable from publisher's website
999 _c21912015
_d21912015