Linked Life Data

17299743

Source:http://linkedlifedata.com/resource/pubmed/id/17299743

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-6-14
pubmed:abstractText
Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the SOD1 gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the SOD1 gene results in an amino acid substitution of lysine for asparagine at position 86 (N86K) of the SOD1 protein. The family history suggested that this autosomal dominantly inherited mutation may be associated with rapidly progressive disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
111-4
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS.
pubmed:affiliation
Department of Neurology, University of Wuerzburg, Josef-Schneider-Strasse 11, 97080 Wuerzburg, Germany. beck_m@klinik.uni-wuerzburg.de
pubmed:publicationType
Journal Article, Case Reports