000 02197 a2200709 4500
005 20250514193625.0
264 0 _c20041221
008 200412s 0 0 eng d
022 _a1526-632X
024 7 _a10.1212/01.wnl.0000132818.84827.4d
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGuerrini, R
245 0 0 _aGermline and mosaic mutations of FLN1 in men with periventricular heterotopia.
_h[electronic resource]
260 _bNeurology
_cJul 2004
300 _a51-6 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAbnormalities, Multiple
_xgenetics
650 0 4 _aBrain Diseases
_xgenetics
650 0 4 _aCell Movement
_xgenetics
650 0 4 _aCerebral Ventricles
_xabnormalities
650 0 4 _aChild, Preschool
650 0 4 _aChoristoma
_xgenetics
650 0 4 _aChromosomes, Human, X
_xgenetics
650 0 4 _aCisterna Magna
_xabnormalities
650 0 4 _aContractile Proteins
_xdeficiency
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDosage Compensation, Genetic
650 0 4 _aFemale
650 0 4 _aFilamins
650 0 4 _aGenes, Lethal
650 0 4 _aGenetic Diseases, X-Linked
_xdiagnosis
650 0 4 _aGerm-Line Mutation
650 0 4 _aHair Follicle
_xchemistry
650 0 4 _aHumans
650 0 4 _aInfant, Newborn
650 0 4 _aIntrons
_xgenetics
650 0 4 _aMale
650 0 4 _aMicrofilament Proteins
_xdeficiency
650 0 4 _aMiddle Aged
650 0 4 _aMosaicism
650 0 4 _aMutation, Missense
650 0 4 _aNeurons
_xpathology
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aPoint Mutation
650 0 4 _aRNA Splice Sites
_xgenetics
650 0 4 _aSequence Deletion
700 1 _aMei, D
700 1 _aSisodiya, S
700 1 _aSicca, F
700 1 _aHarding, B
700 1 _aTakahashi, Y
700 1 _aDorn, T
700 1 _aYoshida, A
700 1 _aCampistol, J
700 1 _aKrämer, G
700 1 _aMoro, F
700 1 _aDobyns, W B
700 1 _aParrini, E
773 0 _tNeurology
_gvol. 63
_gno. 1
_gp. 51-6
856 4 0 _uhttps://doi.org/10.1212/01.wnl.0000132818.84827.4d
_zAvailable from publisher's website
999 _c14952657
_d14952657