Linked Life Data

17439913

Source:http://linkedlifedata.com/resource/pubmed/id/17439913

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2007-4-18
pubmed:abstractText
Vanishing white matter (VWM) is a childhood leukoencephalopathy with central hypomyelination, white matter rarefaction, and cystic degeneration. Adult onset, variable phenotype, and high frequency characterize Arg113His mutation caused by G338A polymorphism associated with VWM. A patient with trauma-associated onset, and clinical features compatible with multiple sclerosis (MS), was homozygous for G338A mutation of eukaryotic translation initiation factor (eIF2B5). The authors checked a cohort of 101 MS patients, including 19 with head/neck trauma-associated onset, and failed to find the mutation, described above, in MS chromosomes. Our report does not exclude the presence in MS chromosomes of other mutations in the eIF2B gene family.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1352-4585
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
424-7
pubmed:dateRevised
2008-10-20
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Arg113His mutation of vanishing white matter is not present in multiple sclerosis.
pubmed:affiliation
Molecular Biology Service, Virgen Macarena University Hospital, Seville, Spain. lucas@us.es
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't