Linked Life Data

1944558

Source:http://linkedlifedata.com/resource/pubmed/id/1944558

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6347
pubmed:dateCreated
1991-12-2
pubmed:databankReference
pubmed:abstractText
A mutation at codon 717 of the beta-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family. This mutation has been reported in a further five out of approximately 100 families multiply affected by Alzheimer's disease. We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 in affected individuals from this family has revealed a base change producing a Val----Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0028-0836
pubmed:author
pubmed:issnType
Print
pubmed:day
31
pubmed:volume
353
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
844-6
pubmed:dateRevised
2010-8-25
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.
pubmed:affiliation
Department of Biochemistry, St Mary's Hospital Medical School, Imperial College, London, UK.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't