000 01648 a2200505 4500
005 20250516103848.0
264 0 _c20130409
008 201304s 0 0 eng d
022 _a1932-6203
024 7 _a10.1371/journal.pone.0041802
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aKwong, Anna Ka-Yee
245 0 0 _aIdentification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
_h[electronic resource]
260 _bPloS one
_c2012
300 _ae41802 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAmino Acid Sequence
650 0 4 _aAnimals
650 0 4 _aAsian People
_xgenetics
650 0 4 _aBase Sequence
650 0 4 _aCadherins
_xchemistry
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aDNA Mutational Analysis
650 0 4 _aEpilepsies, Myoclonic
_xcomplications
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aIntellectual Disability
_xcomplications
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aMutation, Missense
_xgenetics
650 0 4 _aNAV1.1 Voltage-Gated Sodium Channel
_xchemistry
650 0 4 _aNuclear Proteins
_xchemistry
650 0 4 _aPhenotype
650 0 4 _aPolymorphism, Genetic
_xgenetics
650 0 4 _aProtocadherins
650 0 4 _aRNA Splice Sites
_xgenetics
700 1 _aFung, Cheuk-Wing
700 1 _aChan, Siu-Yuen
700 1 _aWong, Virginia Chun-Nei
773 0 _tPloS one
_gvol. 7
_gno. 7
_gp. e41802
856 4 0 _uhttps://doi.org/10.1371/journal.pone.0041802
_zAvailable from publisher's website
999 _c21988087
_d21988087