19350499

Source:http://linkedlifedata.com/resource/pubmed/id/19350499

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0751122, umls-concept:C0796357, umls-concept:C1419856
pubmed:issue	2
pubmed:dateCreated	2009-4-7
pubmed:abstractText	To investigate the mutations of the sodium channel alpha 1 subunit gene SCN1A in severe myoclonic epilepsy of infancy (SMEI) patients and analyze its inheritance.
pubmed:language	chi
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9425197
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense, http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Sodium Channels
pubmed:status	MEDLINE
pubmed:month	Apr
pubmed:issn	1003-9406
pubmed:author	pubmed-author:AstD BDB, pubmed-author:LiuXiaoyanX, pubmed-author:MaXiuweiX, pubmed-author:QinJiongJ, pubmed-author:SunHuihuiH, pubmed-author:WuHushengH, pubmed-author:WuXiruX, pubmed-author:XuKemingK, pubmed-author:ZhangYuehuaY
pubmed:issnType	Print
pubmed:volume	26
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	121-7
pubmed:meshHeading	pubmed-meshheading:19350499-Adolescent, pubmed-meshheading:19350499-Age of Onset, pubmed-meshheading:19350499-Amino Acid Sequence, pubmed-meshheading:19350499-Child, pubmed-meshheading:19350499-Child, Preschool, pubmed-meshheading:19350499-Chromosome Mapping, pubmed-meshheading:19350499-Codon, Nonsense, pubmed-meshheading:19350499-DNA Mutational Analysis, pubmed-meshheading:19350499-Epilepsies, Myoclonic, pubmed-meshheading:19350499-Exons, pubmed-meshheading:19350499-Female, pubmed-meshheading:19350499-Genotype, pubmed-meshheading:19350499-Humans, pubmed-meshheading:19350499-Infant, pubmed-meshheading:19350499-Male, pubmed-meshheading:19350499-Molecular Sequence Data, pubmed-meshheading:19350499-Mutation, Missense, pubmed-meshheading:19350499-Nerve Tissue Proteins, pubmed-meshheading:19350499-Pedigree, pubmed-meshheading:19350499-Phenotype, pubmed-meshheading:19350499-Sequence Alignment, pubmed-meshheading:19350499-Sequence Deletion, pubmed-meshheading:19350499-Sodium Channels
pubmed:year	2009
pubmed:articleTitle	[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].
pubmed:affiliation	Department of Pediatrics, the First Hospital of Peking University, Beijing, 100034 P. R. China. zhangyhdr@126.com.
pubmed:publicationType	Journal Article, English Abstract, Research Support, Non-U.S. Gov't