pubmed-article:19629184 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:19629184 | lifeskim:mentions | umls-concept:C0016719 | lld:lifeskim |
pubmed-article:19629184 | lifeskim:mentions | umls-concept:C0026339 | lld:lifeskim |
pubmed-article:19629184 | lifeskim:mentions | umls-concept:C0026336 | lld:lifeskim |
pubmed-article:19629184 | lifeskim:mentions | umls-concept:C0178539 | lld:lifeskim |
pubmed-article:19629184 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
pubmed-article:19629184 | lifeskim:mentions | umls-concept:C0599155 | lld:lifeskim |
pubmed-article:19629184 | lifeskim:mentions | umls-concept:C0387678 | lld:lifeskim |
pubmed-article:19629184 | lifeskim:mentions | umls-concept:C0243067 | lld:lifeskim |
pubmed-article:19629184 | lifeskim:mentions | umls-concept:C1705938 | lld:lifeskim |
pubmed-article:19629184 | lifeskim:mentions | umls-concept:C1527178 | lld:lifeskim |
pubmed-article:19629184 | pubmed:issue | 7 | lld:pubmed |
pubmed-article:19629184 | pubmed:dateCreated | 2009-7-24 | lld:pubmed |
pubmed-article:19629184 | pubmed:abstractText | Friedreich ataxia (FRDA), the most common form of recessive ataxia, is due to reduced levels of frataxin, a highly conserved mitochondrial iron-chaperone involved in iron-sulfur cluster (ISC) biogenesis. Most patients are homozygous for a (GAA)(n) expansion within the first intron of the frataxin gene. A few patients, either with typical or atypical clinical presentation, are compound heterozygous for the GAA expansion and a micromutation. | lld:pubmed |
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pubmed-article:19629184 | pubmed:language | eng | lld:pubmed |
pubmed-article:19629184 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:19629184 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:19629184 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:19629184 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:19629184 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:19629184 | pubmed:issn | 1932-6203 | lld:pubmed |
pubmed-article:19629184 | pubmed:author | pubmed-author:KoenigMichelM | lld:pubmed |
pubmed-article:19629184 | pubmed:author | pubmed-author:BoutonCécileC | lld:pubmed |
pubmed-article:19629184 | pubmed:author | pubmed-author:PuccioHélèneH | lld:pubmed |
pubmed-article:19629184 | pubmed:author | pubmed-author:MessaddeqNadi... | lld:pubmed |
pubmed-article:19629184 | pubmed:author | pubmed-author:MartelliAlain... | lld:pubmed |
pubmed-article:19629184 | pubmed:author | pubmed-author:ReutenauerLau... | lld:pubmed |
pubmed-article:19629184 | pubmed:author | pubmed-author:Wattenhofer-D... | lld:pubmed |
pubmed-article:19629184 | pubmed:author | pubmed-author:SchmuckerStép... | lld:pubmed |
pubmed-article:19629184 | pubmed:author | pubmed-author:CalmelsNadège... | lld:pubmed |
pubmed-article:19629184 | pubmed:author | pubmed-author:VaucampsNadèg... | lld:pubmed |
pubmed-article:19629184 | pubmed:issnType | Electronic | lld:pubmed |
pubmed-article:19629184 | pubmed:volume | 4 | lld:pubmed |
pubmed-article:19629184 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:19629184 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:19629184 | pubmed:pagination | e6379 | lld:pubmed |
pubmed-article:19629184 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
pubmed-article:19629184 | pubmed:meshHeading | pubmed-meshheading:19629184... | lld:pubmed |
pubmed-article:19629184 | pubmed:meshHeading | pubmed-meshheading:19629184... | lld:pubmed |
pubmed-article:19629184 | pubmed:meshHeading | pubmed-meshheading:19629184... | lld:pubmed |
pubmed-article:19629184 | pubmed:meshHeading | pubmed-meshheading:19629184... | lld:pubmed |
pubmed-article:19629184 | pubmed:meshHeading | pubmed-meshheading:19629184... | lld:pubmed |
pubmed-article:19629184 | pubmed:meshHeading | pubmed-meshheading:19629184... | lld:pubmed |
pubmed-article:19629184 | pubmed:meshHeading | pubmed-meshheading:19629184... | lld:pubmed |
pubmed-article:19629184 | pubmed:year | 2009 | lld:pubmed |
pubmed-article:19629184 | pubmed:articleTitle | The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. | lld:pubmed |