| pubmed-article:21144619 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:21144619 | lifeskim:mentions | umls-concept:C0002395 | lld:lifeskim |
| pubmed-article:21144619 | lifeskim:mentions | umls-concept:C0205145 | lld:lifeskim |
| pubmed-article:21144619 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:21144619 | lifeskim:mentions | umls-concept:C0299212 | lld:lifeskim |
| pubmed-article:21144619 | lifeskim:mentions | umls-concept:C0443147 | lld:lifeskim |
| pubmed-article:21144619 | lifeskim:mentions | umls-concept:C1418985 | lld:lifeskim |
| pubmed-article:21144619 | lifeskim:mentions | umls-concept:C0681842 | lld:lifeskim |
| pubmed-article:21144619 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:21144619 | lifeskim:mentions | umls-concept:C0678227 | lld:lifeskim |
| pubmed-article:21144619 | lifeskim:mentions | umls-concept:C0450254 | lld:lifeskim |
| pubmed-article:21144619 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:21144619 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:21144619 | pubmed:dateCreated | 2011-3-28 | lld:pubmed |
| pubmed-article:21144619 | pubmed:abstractText | We report a novel presenilin-1 (PSEN1) mutation, I202F occurring in a Welsh kindred with familial Alzheimer's disease. The average age at onset was 53 years. The I202F mutation occurs in alignment with previously reported PSEN1 mutations in the fourth transmembrane domain and confirms that PSEN1 mutations line up along transmembrane alpha-helices. | lld:pubmed |
| pubmed-article:21144619 | pubmed:language | eng | lld:pubmed |
| pubmed-article:21144619 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21144619 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:21144619 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21144619 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21144619 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21144619 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21144619 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:21144619 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:21144619 | pubmed:issn | 1558-1497 | lld:pubmed |
| pubmed-article:21144619 | pubmed:author | pubmed-author:MorrisHuw RHR | lld:pubmed |
| pubmed-article:21144619 | pubmed:author | pubmed-author:ReesJaniceJ | lld:pubmed |
| pubmed-article:21144619 | pubmed:author | pubmed-author:WilliamsonKat... | lld:pubmed |
| pubmed-article:21144619 | pubmed:author | pubmed-author:LillisSuzanne... | lld:pubmed |
| pubmed-article:21144619 | pubmed:author | pubmed-author:ChurchAlistai... | lld:pubmed |
| pubmed-article:21144619 | pubmed:author | pubmed-author:PrescottJunit... | lld:pubmed |
| pubmed-article:21144619 | pubmed:author | pubmed-author:ChancePatrick... | lld:pubmed |
| pubmed-article:21144619 | pubmed:copyrightInfo | Copyright © 2011 Elsevier Inc. All rights reserved. | lld:pubmed |
| pubmed-article:21144619 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:21144619 | pubmed:volume | 32 | lld:pubmed |
| pubmed-article:21144619 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:21144619 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:21144619 | pubmed:pagination | 556.e1-2 | lld:pubmed |
| pubmed-article:21144619 | pubmed:dateRevised | 2011-8-27 | lld:pubmed |
| pubmed-article:21144619 | pubmed:meshHeading | pubmed-meshheading:21144619... | lld:pubmed |
| pubmed-article:21144619 | pubmed:meshHeading | pubmed-meshheading:21144619... | lld:pubmed |
| pubmed-article:21144619 | pubmed:meshHeading | pubmed-meshheading:21144619... | lld:pubmed |
| pubmed-article:21144619 | pubmed:meshHeading | pubmed-meshheading:21144619... | lld:pubmed |
| pubmed-article:21144619 | pubmed:meshHeading | pubmed-meshheading:21144619... | lld:pubmed |
| pubmed-article:21144619 | pubmed:meshHeading | pubmed-meshheading:21144619... | lld:pubmed |
| pubmed-article:21144619 | pubmed:meshHeading | pubmed-meshheading:21144619... | lld:pubmed |
| pubmed-article:21144619 | pubmed:meshHeading | pubmed-meshheading:21144619... | lld:pubmed |
| pubmed-article:21144619 | pubmed:meshHeading | pubmed-meshheading:21144619... | lld:pubmed |
| pubmed-article:21144619 | pubmed:meshHeading | pubmed-meshheading:21144619... | lld:pubmed |
| pubmed-article:21144619 | pubmed:year | 2011 | lld:pubmed |
| pubmed-article:21144619 | pubmed:articleTitle | A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease. | lld:pubmed |
| pubmed-article:21144619 | pubmed:affiliation | Department of Neurology, Royal Gwent Hospital, Newport, Gwent, UK. | lld:pubmed |
| pubmed-article:21144619 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:21144619 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:5663 | entrezgene:pubmed | pubmed-article:21144619 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:21144619 | lld:entrezgene |
