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| pubmed-article:8596916 | lifeskim:mentions | umls-concept:C1414899 | lld:lifeskim |
| pubmed-article:8596916 | lifeskim:mentions | umls-concept:C0282537 | lld:lifeskim |
| pubmed-article:8596916 | pubmed:issue | 5254 | lld:pubmed |
| pubmed-article:8596916 | pubmed:dateCreated | 1996-4-17 | lld:pubmed |
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| pubmed-article:8596916 | pubmed:abstractText | Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron. | lld:pubmed |
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| pubmed-article:8596916 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:8596916 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8596916 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:8596916 | pubmed:issn | 0036-8075 | lld:pubmed |
| pubmed-article:8596916 | pubmed:author | pubmed-author:Di DonatoSS | lld:pubmed |
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| pubmed-article:8596916 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8596916 | pubmed:day | 8 | lld:pubmed |
| pubmed-article:8596916 | pubmed:volume | 271 | lld:pubmed |
| pubmed-article:8596916 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8596916 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8596916 | pubmed:pagination | 1423-7 | lld:pubmed |
| pubmed-article:8596916 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:8596916 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8596916 | pubmed:articleTitle | Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. | lld:pubmed |
| pubmed-article:8596916 | pubmed:affiliation | Department de Genetica, University of Valencia, Spain. | lld:pubmed |
| pubmed-article:8596916 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8596916 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:8596916 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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