15136673

Source:http://linkedlifedata.com/resource/pubmed/id/15136673

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017431, umls-concept:C0023520, umls-concept:C0175860, umls-concept:C0262926, umls-concept:C0332119, umls-concept:C1280500
pubmed:issue	9
pubmed:dateCreated	2004-5-11
pubmed:abstractText	Recessive mutations in the five eucaryotic initiation factor 2B (eIF2B) subunits have been found in leukodystrophies of variable age at onset and severity.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/DK13499
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/15136673-15136665
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Eukaryotic Initiation Factor-2B
pubmed:status	MEDLINE
pubmed:month	May
pubmed:issn	1526-632X
pubmed:author	pubmed-author:BertiniEE, pubmed-author:Boespflug-TanguyOO, pubmed-author:ChaunuM-PMP, pubmed-author:CombesPP, pubmed-author:Eymard-PierreEE, pubmed-author:FogliAA, pubmed-author:KaneskiC RCR, pubmed-author:PinedaMM, pubmed-author:PuginDD, pubmed-author:RodriguezDD, pubmed-author:SchiffmannRR, pubmed-author:SurteesRR, pubmed-author:TroncosoMM, pubmed-author:UghettoSS, pubmed-author:UzielGG
pubmed:issnType	Electronic
pubmed:day	11
pubmed:volume	62
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1509-17
pubmed:dateRevised	2007-11-14
pubmed:meshHeading	pubmed-meshheading:15136673-Adolescent, pubmed-meshheading:15136673-Adult, pubmed-meshheading:15136673-Age of Onset, pubmed-meshheading:15136673-Brain, pubmed-meshheading:15136673-Child, pubmed-meshheading:15136673-DNA Mutational Analysis, pubmed-meshheading:15136673-Diffuse Cerebral Sclerosis of Schilder, pubmed-meshheading:15136673-Eukaryotic Initiation Factor-2B, pubmed-meshheading:15136673-Family, pubmed-meshheading:15136673-Female, pubmed-meshheading:15136673-Gene Expression, pubmed-meshheading:15136673-Genotype, pubmed-meshheading:15136673-Hereditary Central Nervous System Demyelinating Diseases, pubmed-meshheading:15136673-Humans, pubmed-meshheading:15136673-Magnetic Resonance Imaging, pubmed-meshheading:15136673-Male, pubmed-meshheading:15136673-Mutation, pubmed-meshheading:15136673-Phenotype, pubmed-meshheading:15136673-Severity of Illness Index, pubmed-meshheading:15136673-Survival Analysis
pubmed:year	2004
pubmed:articleTitle	The effect of genotype on the natural history of eIF2B-related leukodystrophies.
pubmed:affiliation	INSERM UMR 384, Faculté de Médecine, Clermont-Ferrand, France.
pubmed:publicationType	Journal Article, Comparative Study, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't