| pubmed-article:14718706 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:14718706 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:14718706 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:14718706 | lifeskim:mentions | umls-concept:C1419804 | lld:lifeskim |
| pubmed-article:14718706 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:14718706 | lifeskim:mentions | umls-concept:C0022277 | lld:lifeskim |
| pubmed-article:14718706 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:14718706 | lifeskim:mentions | umls-concept:C1710133 | lld:lifeskim |
| pubmed-article:14718706 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:14718706 | pubmed:dateCreated | 2004-1-13 | lld:pubmed |
| pubmed-article:14718706 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14718706 | pubmed:abstractText | A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS. | lld:pubmed |
| pubmed-article:14718706 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14718706 | pubmed:language | eng | lld:pubmed |
| pubmed-article:14718706 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14718706 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:14718706 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14718706 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14718706 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:14718706 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:14718706 | pubmed:issn | 1526-632X | lld:pubmed |
| pubmed-article:14718706 | pubmed:author | pubmed-author:SantoroLL | lld:pubmed |
| pubmed-article:14718706 | pubmed:author | pubmed-author:De MicheleGG | lld:pubmed |
| pubmed-article:14718706 | pubmed:author | pubmed-author:PerrettiAA | lld:pubmed |
| pubmed-article:14718706 | pubmed:author | pubmed-author:FillaAA | lld:pubmed |
| pubmed-article:14718706 | pubmed:author | pubmed-author:BanfiSS | lld:pubmed |
| pubmed-article:14718706 | pubmed:author | pubmed-author:GaspariniPP | lld:pubmed |
| pubmed-article:14718706 | pubmed:author | pubmed-author:MonticelliAA | lld:pubmed |
| pubmed-article:14718706 | pubmed:author | pubmed-author:SantorelliF... | lld:pubmed |
| pubmed-article:14718706 | pubmed:author | pubmed-author:CriscuoloCC | lld:pubmed |
| pubmed-article:14718706 | pubmed:author | pubmed-author:OrioMM | lld:pubmed |
| pubmed-article:14718706 | pubmed:author | pubmed-author:ScaranoVV | lld:pubmed |
| pubmed-article:14718706 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:14718706 | pubmed:day | 13 | lld:pubmed |
| pubmed-article:14718706 | pubmed:volume | 62 | lld:pubmed |
| pubmed-article:14718706 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:14718706 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:14718706 | pubmed:pagination | 100-2 | lld:pubmed |
| pubmed-article:14718706 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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| pubmed-article:14718706 | pubmed:meshHeading | pubmed-meshheading:14718706... | lld:pubmed |
| pubmed-article:14718706 | pubmed:year | 2004 | lld:pubmed |
| pubmed-article:14718706 | pubmed:articleTitle | A novel mutation in SACS gene in a family from southern Italy. | lld:pubmed |
| pubmed-article:14718706 | pubmed:affiliation | Department of Neurological Sciences, Federico II University, Naples, Italy. sky569@libero.it | lld:pubmed |
| pubmed-article:14718706 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:14718706 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:14718706 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:26278 | entrezgene:pubmed | pubmed-article:14718706 | lld:entrezgene |
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