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rdf:type |
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lifeskim:mentions |
umls-concept:C0008656,
umls-concept:C0009221,
umls-concept:C0015576,
umls-concept:C0017337,
umls-concept:C0036720,
umls-concept:C0205210,
umls-concept:C0276496,
umls-concept:C0299212,
umls-concept:C1418985,
umls-concept:C1521970,
umls-concept:C1555721,
umls-concept:C1706204
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pubmed:issue |
1
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pubmed:dateCreated |
1998-1-30
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pubmed:abstractText |
Seven affected members are described from a kindred with autosomal dominant familial Alzheimer's disease associated with a novel mutation in the presenilin 1 (PS1) gene on chromosome 14 that results in a leucine to serine substitution at codon 250 (L250S).
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-1202204,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-1303291,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-1411576,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-1584463,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-1671712,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-2025423,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-2314579,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-3982631,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7104545,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7581373,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7581440,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7585193,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7596406,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7623584,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7623585,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7638622,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7651536,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7700439,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7723630,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-7895004,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8080244,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8080245,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8474686,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8509767,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8538334,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8596269,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8634711,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8634712,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8733749,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8742474,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8837617,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-8875251,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9436726-9126060
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0022-3050
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
44-9
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:9436726-Age of Onset,
pubmed-meshheading:9436726-Alzheimer Disease,
pubmed-meshheading:9436726-Amino Acid Substitution,
pubmed-meshheading:9436726-Chromosome Aberrations,
pubmed-meshheading:9436726-Chromosome Disorders,
pubmed-meshheading:9436726-Chromosomes, Human, Pair 14,
pubmed-meshheading:9436726-Female,
pubmed-meshheading:9436726-Genes, Dominant,
pubmed-meshheading:9436726-Humans,
pubmed-meshheading:9436726-Leucine,
pubmed-meshheading:9436726-Male,
pubmed-meshheading:9436726-Membrane Proteins,
pubmed-meshheading:9436726-Middle Aged,
pubmed-meshheading:9436726-Mutation,
pubmed-meshheading:9436726-Pedigree,
pubmed-meshheading:9436726-Presenilin-1,
pubmed-meshheading:9436726-Questionnaires,
pubmed-meshheading:9436726-Retrospective Studies,
pubmed-meshheading:9436726-Serine
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pubmed:year |
1998
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pubmed:articleTitle |
Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.
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pubmed:affiliation |
Dementia Research Group, The National Hospital for Neurology and Neurosurgery and Imperial College School of Medicine at St Mary's, London, UK.
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pubmed:publicationType |
Journal Article
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