pubmed-article:19766248 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:19766248 | lifeskim:mentions | umls-concept:C0205145 | lld:lifeskim |
pubmed-article:19766248 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:19766248 | lifeskim:mentions | umls-concept:C1446659 | lld:lifeskim |
pubmed-article:19766248 | lifeskim:mentions | umls-concept:C1852220 | lld:lifeskim |
pubmed-article:19766248 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
pubmed-article:19766248 | pubmed:issue | 1-2 | lld:pubmed |
pubmed-article:19766248 | pubmed:dateCreated | 2009-11-9 | lld:pubmed |
pubmed-article:19766248 | pubmed:abstractText | Two families with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) resulting from the microtubule associated protein tau (MAPT) gene IVS10+16C>T splice site mutation are reported, members of which showed variable clinical phenotypes at presentation. Possible explanations for the intra- and interfamilial clinical heterogeneity associated with this MAPT mutation are discussed. | lld:pubmed |
pubmed-article:19766248 | pubmed:language | eng | lld:pubmed |
pubmed-article:19766248 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:19766248 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:19766248 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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pubmed-article:19766248 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:19766248 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:19766248 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:19766248 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:19766248 | pubmed:month | Dec | lld:pubmed |
pubmed-article:19766248 | pubmed:issn | 1878-5883 | lld:pubmed |
pubmed-article:19766248 | pubmed:author | pubmed-author:LarnerA JAJ | lld:pubmed |
pubmed-article:19766248 | pubmed:issnType | Electronic | lld:pubmed |
pubmed-article:19766248 | pubmed:day | 15 | lld:pubmed |
pubmed-article:19766248 | pubmed:volume | 287 | lld:pubmed |
pubmed-article:19766248 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:19766248 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:19766248 | pubmed:pagination | 253-6 | lld:pubmed |
pubmed-article:19766248 | pubmed:dateRevised | 2010-4-8 | lld:pubmed |
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pubmed-article:19766248 | pubmed:meshHeading | pubmed-meshheading:19766248... | lld:pubmed |
pubmed-article:19766248 | pubmed:year | 2009 | lld:pubmed |
pubmed-article:19766248 | pubmed:articleTitle | Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation. | lld:pubmed |
pubmed-article:19766248 | pubmed:affiliation | Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Lower Lane, Fazakerley, Liverpool L9 7LJ, United Kingdom. a.larner@thewaltoncentre.nhs.uk | lld:pubmed |
pubmed-article:19766248 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:19766248 | pubmed:publicationType | Case Reports | lld:pubmed |
entrez-gene:4137 | entrezgene:pubmed | pubmed-article:19766248 | lld:entrezgene |
http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19766248 | lld:entrezgene |