Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2003-8-19
pubmed:abstractText
Autosomal dominant early-onset Alzheimer disease is a heterogeneous condition that has been associated with mutations in 3 different genes: the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes. Most cases are due to mutations in the PSEN1 gene, whereas mutations in the APP and PSEN2 genes are rare.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0003-9942
pubmed:author
pubmed:issnType
Print
pubmed:volume
60
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1149-51
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:12925374-Age of Onset, pubmed-meshheading:12925374-Aged, pubmed-meshheading:12925374-Alzheimer Disease, pubmed-meshheading:12925374-Amino Acid Substitution, pubmed-meshheading:12925374-Animals, pubmed-meshheading:12925374-DNA Mutational Analysis, pubmed-meshheading:12925374-Female, pubmed-meshheading:12925374-Gene Expression, pubmed-meshheading:12925374-Humans, pubmed-meshheading:12925374-Male, pubmed-meshheading:12925374-Membrane Proteins, pubmed-meshheading:12925374-Mice, pubmed-meshheading:12925374-Middle Aged, pubmed-meshheading:12925374-Mutation, Missense, pubmed-meshheading:12925374-Pedigree, pubmed-meshheading:12925374-Polymerase Chain Reaction, pubmed-meshheading:12925374-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:12925374-Presenilin-2, pubmed-meshheading:12925374-Tourette Syndrome
pubmed:year
2003
pubmed:articleTitle
A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.
pubmed:affiliation
Genetics Service, Department of Ciencias Fisiologicas I, University of Barcelona, Institut de Investigacions Biomédiques Agustí Pi i Sunyer, Hospital Clínic, Villaroel 170, 08036 Barcelona, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't