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| pubmed-article:2813377 | lifeskim:mentions | umls-concept:C0205341 | lld:lifeskim |
| pubmed-article:2813377 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:2813377 | lifeskim:mentions | umls-concept:C0162326 | lld:lifeskim |
| pubmed-article:2813377 | lifeskim:mentions | umls-concept:C0450254 | lld:lifeskim |
| pubmed-article:2813377 | pubmed:issue | 20 | lld:pubmed |
| pubmed-article:2813377 | pubmed:dateCreated | 1989-12-1 | lld:pubmed |
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| pubmed-article:2813377 | pubmed:abstractText | We determined the nucleotide sequences of junctional regions associated with large deletions of mitochondrial DNA found in four unrelated individuals with a phenotype of chronic progressive external ophthalmoplegia. In each patient, the deletion breakpoint occurred within a directly repeated sequence of 13-18 base pairs, present in different regions of the normal mitochondrial genome-separated by 4.5-7.7 kilobases. In two patients, the deletions were identical. When all four repeated sequences are compared, a consensus sequence of 11 nucleotides emerges, similar to putative recombination signals, suggesting the involvement of a recombinational event. Partially deleted and normal mitochondrial DNAs were found in all tissues examined, but in very different proportions, indicating that these mutations originated before the primary cell layers diverged. | lld:pubmed |
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| pubmed-article:2813377 | pubmed:language | eng | lld:pubmed |
| pubmed-article:2813377 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2813377 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:2813377 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:2813377 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:2813377 | pubmed:issn | 0027-8424 | lld:pubmed |
| pubmed-article:2813377 | pubmed:author | pubmed-author:StineO COC | lld:pubmed |
| pubmed-article:2813377 | pubmed:author | pubmed-author:HurkoOO | lld:pubmed |
| pubmed-article:2813377 | pubmed:author | pubmed-author:JohnsD RDR | lld:pubmed |
| pubmed-article:2813377 | pubmed:author | pubmed-author:RutledgeS LSL | lld:pubmed |
| pubmed-article:2813377 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:2813377 | pubmed:volume | 86 | lld:pubmed |
| pubmed-article:2813377 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:2813377 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:2813377 | pubmed:pagination | 8059-62 | lld:pubmed |
| pubmed-article:2813377 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:2813377 | pubmed:year | 1989 | lld:pubmed |
| pubmed-article:2813377 | pubmed:articleTitle | Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. | lld:pubmed |
| pubmed-article:2813377 | pubmed:affiliation | Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205. | lld:pubmed |
| pubmed-article:2813377 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:2813377 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:2813377 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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