pubmed-article:11381254 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:11381254 | lifeskim:mentions | umls-concept:C0393576 | lld:lifeskim |
pubmed-article:11381254 | lifeskim:mentions | umls-concept:C0033684 | lld:lifeskim |
pubmed-article:11381254 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
pubmed-article:11381254 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:11381254 | lifeskim:mentions | umls-concept:C0679058 | lld:lifeskim |
pubmed-article:11381254 | lifeskim:mentions | umls-concept:C1547699 | lld:lifeskim |
pubmed-article:11381254 | lifeskim:mentions | umls-concept:C2700640 | lld:lifeskim |
pubmed-article:11381254 | pubmed:issue | 2 | lld:pubmed |
pubmed-article:11381254 | pubmed:dateCreated | 2001-5-30 | lld:pubmed |
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pubmed-article:11381254 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:11381254 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:11381254 | pubmed:abstractText | Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found. We refined the locus region and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a truncated protein in both alleles of patients and in single alleles of obligate carriers. | lld:pubmed |
pubmed-article:11381254 | pubmed:language | eng | lld:pubmed |
pubmed-article:11381254 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:11381254 | pubmed:citationSubset | IM | lld:pubmed |
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pubmed-article:11381254 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:11381254 | pubmed:month | Jun | lld:pubmed |
pubmed-article:11381254 | pubmed:issn | 1061-4036 | lld:pubmed |
pubmed-article:11381254 | pubmed:author | pubmed-author:MatsudaSS | lld:pubmed |
pubmed-article:11381254 | pubmed:author | pubmed-author:NakamuraMM | lld:pubmed |
pubmed-article:11381254 | pubmed:author | pubmed-author:KanekoSS | lld:pubmed |
pubmed-article:11381254 | pubmed:author | pubmed-author:TanabeHH | lld:pubmed |
pubmed-article:11381254 | pubmed:author | pubmed-author:YamashitaYY | lld:pubmed |
pubmed-article:11381254 | pubmed:author | pubmed-author:SaniGG | lld:pubmed |
pubmed-article:11381254 | pubmed:author | pubmed-author:MarukiYY | lld:pubmed |
pubmed-article:11381254 | pubmed:author | pubmed-author:Ueno SS | lld:pubmed |
pubmed-article:11381254 | pubmed:author | pubmed-author:TomemoriYY | lld:pubmed |
pubmed-article:11381254 | pubmed:author | pubmed-author:KamaeKK | lld:pubmed |
pubmed-article:11381254 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:11381254 | pubmed:volume | 28 | lld:pubmed |
pubmed-article:11381254 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:11381254 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:11381254 | pubmed:pagination | 121-2 | lld:pubmed |
pubmed-article:11381254 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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pubmed-article:11381254 | pubmed:year | 2001 | lld:pubmed |
pubmed-article:11381254 | pubmed:articleTitle | The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. | lld:pubmed |
pubmed-article:11381254 | pubmed:affiliation | Department of Neuropsychiatry, Ehime University School of Medicine, Shigenobu, Ehime, Japan. | lld:pubmed |
pubmed-article:11381254 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:11381254 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
entrez-gene:23230 | entrezgene:pubmed | pubmed-article:11381254 | lld:entrezgene |
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