| pubmed-article:10360778 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10360778 | lifeskim:mentions | umls-concept:C0033164 | lld:lifeskim |
| pubmed-article:10360778 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
| pubmed-article:10360778 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:10360778 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:10360778 | lifeskim:mentions | umls-concept:C0009221 | lld:lifeskim |
| pubmed-article:10360778 | lifeskim:mentions | umls-concept:C0042285 | lld:lifeskim |
| pubmed-article:10360778 | lifeskim:mentions | umls-concept:C0031437 | lld:lifeskim |
| pubmed-article:10360778 | lifeskim:mentions | umls-concept:C0751254 | lld:lifeskim |
| pubmed-article:10360778 | lifeskim:mentions | umls-concept:C1948027 | lld:lifeskim |
| pubmed-article:10360778 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:10360778 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:10360778 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:10360778 | pubmed:dateCreated | 1999-6-24 | lld:pubmed |
| pubmed-article:10360778 | pubmed:abstractText | A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon 200 of the prion protein gene (PRNP) coupled with the valine codon 129 (E200K-129V haplotype) has two features never observed in subjects carrying the pathogenic mutation coupled with the methionine codon 129 (E200K-129M haplotype): (1) plaque-like prion protein (PrP) deposits in the cerebellum and (2) type 2 protease-resistant prion protein (PrP(res)). This observation further underlines the role of codon 129 on the mutated PRNP allele in modulating the phenotype of familial prion diseases. | lld:pubmed |
| pubmed-article:10360778 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10360778 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10360778 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10360778 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10360778 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10360778 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10360778 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10360778 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:10360778 | pubmed:issn | 0364-5134 | lld:pubmed |
| pubmed-article:10360778 | pubmed:author | pubmed-author:GambettiPP | lld:pubmed |
| pubmed-article:10360778 | pubmed:author | pubmed-author:BudkaHH | lld:pubmed |
| pubmed-article:10360778 | pubmed:author | pubmed-author:KitamotoTT | lld:pubmed |
| pubmed-article:10360778 | pubmed:author | pubmed-author:ParchiPP | lld:pubmed |
| pubmed-article:10360778 | pubmed:author | pubmed-author:HainfellnerJ... | lld:pubmed |
| pubmed-article:10360778 | pubmed:author | pubmed-author:JariusCC | lld:pubmed |
| pubmed-article:10360778 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10360778 | pubmed:volume | 45 | lld:pubmed |
| pubmed-article:10360778 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10360778 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10360778 | pubmed:pagination | 812-6 | lld:pubmed |
| pubmed-article:10360778 | pubmed:dateRevised | 2004-11-17 | lld:pubmed |
| pubmed-article:10360778 | pubmed:meshHeading | pubmed-meshheading:10360778... | lld:pubmed |
| pubmed-article:10360778 | pubmed:meshHeading | pubmed-meshheading:10360778... | lld:pubmed |
| pubmed-article:10360778 | pubmed:meshHeading | pubmed-meshheading:10360778... | lld:pubmed |
| pubmed-article:10360778 | pubmed:meshHeading | pubmed-meshheading:10360778... | lld:pubmed |
| pubmed-article:10360778 | pubmed:meshHeading | pubmed-meshheading:10360778... | lld:pubmed |
| pubmed-article:10360778 | pubmed:meshHeading | pubmed-meshheading:10360778... | lld:pubmed |
| pubmed-article:10360778 | pubmed:meshHeading | pubmed-meshheading:10360778... | lld:pubmed |
| pubmed-article:10360778 | pubmed:meshHeading | pubmed-meshheading:10360778... | lld:pubmed |
| pubmed-article:10360778 | pubmed:meshHeading | pubmed-meshheading:10360778... | lld:pubmed |
| pubmed-article:10360778 | pubmed:meshHeading | pubmed-meshheading:10360778... | lld:pubmed |
| pubmed-article:10360778 | pubmed:meshHeading | pubmed-meshheading:10360778... | lld:pubmed |
| pubmed-article:10360778 | pubmed:year | 1999 | lld:pubmed |
| pubmed-article:10360778 | pubmed:articleTitle | A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein. | lld:pubmed |
| pubmed-article:10360778 | pubmed:affiliation | Institute of Neurology, University of Vienna, and the Austrian Reference Center for Human Prion Diseases. | lld:pubmed |
| pubmed-article:10360778 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10360778 | pubmed:publicationType | Case Reports | lld:pubmed |
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