18505993

Source:http://linkedlifedata.com/resource/pubmed/id/18505993

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0205314, umls-concept:C0205422, umls-concept:C0241888, umls-concept:C0270853, umls-concept:C0679622, umls-concept:C1424254
pubmed:issue	22 Pt 2
pubmed:dateCreated	2008-5-28
pubmed:abstractText	Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, the GENESS Consortium demonstrated four missense mutations in Myoclonin1/EFHC1 of chromosome 6p12.1 segregating in 20% of Hispanic families with JME.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/R01-NS42376
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Calcium-Binding Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Chloride Channels, http://linkedlifedata.com/resource/pubmed/chemical/ClC-2 chloride channels, http://linkedlifedata.com/resource/pubmed/chemical/EFHC1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/GABRA1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Receptors, GABA-A
pubmed:status	MEDLINE
pubmed:month	May
pubmed:issn	1526-632X
pubmed:author	pubmed-author:AlonsoM EME, pubmed-author:BaileyJ NJN, pubmed-author:BanAA, pubmed-author:Delgado-EscuetaA VAV, pubmed-author:DurónR MRM, pubmed-author:FujimotoSS, pubmed-author:HamanoSS, pubmed-author:InoueYY, pubmed-author:ItoMM, pubmed-author:KanekoSS, pubmed-author:Machado-SalasJJ, pubmed-author:Martínez-JuárezI EIE, pubmed-author:MedinaM TMT, pubmed-author:MontoyaM CMC, pubmed-author:OchoaAA, pubmed-author:OguniHH, pubmed-author:OsawaMM, pubmed-author:PradoA JaraAJ, pubmed-author:Rubio-DonnadieuFF, pubmed-author:SugitaKK, pubmed-author:SuzukiTT, pubmed-author:TanakaMM, pubmed-author:UedaYY, pubmed-author:YamakawaKK, pubmed-author:YoshimuraII
pubmed:issnType	Electronic
pubmed:day	27
pubmed:volume	70
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	2137-44
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:18505993-Calcium-Binding Proteins, pubmed-meshheading:18505993-Chloride Channels, pubmed-meshheading:18505993-DNA Mutational Analysis, pubmed-meshheading:18505993-Family Health, pubmed-meshheading:18505993-Female, pubmed-meshheading:18505993-Genotype, pubmed-meshheading:18505993-Honduras, pubmed-meshheading:18505993-Humans, pubmed-meshheading:18505993-Japan, pubmed-meshheading:18505993-Male, pubmed-meshheading:18505993-Mexico, pubmed-meshheading:18505993-Mutation, pubmed-meshheading:18505993-Myoclonic Epilepsy, Juvenile, pubmed-meshheading:18505993-Phenotype, pubmed-meshheading:18505993-Promoter Regions, Genetic, pubmed-meshheading:18505993-Receptors, GABA-A
pubmed:year	2008
pubmed:articleTitle	Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.
pubmed:affiliation	Neurology Training Program, National Autonomous University of Honduras, Tegucigalpa, Honduras.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, Non-P.H.S., Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural