pubmed-article:8434613 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:8434613 | lifeskim:mentions | umls-concept:C0034865 | lld:lifeskim |
pubmed-article:8434613 | lifeskim:mentions | umls-concept:C1257890 | lld:lifeskim |
pubmed-article:8434613 | lifeskim:mentions | umls-concept:C0016719 | lld:lifeskim |
pubmed-article:8434613 | lifeskim:mentions | umls-concept:C0205107 | lld:lifeskim |
pubmed-article:8434613 | lifeskim:mentions | umls-concept:C0008633 | lld:lifeskim |
pubmed-article:8434613 | lifeskim:mentions | umls-concept:C1708726 | lld:lifeskim |
pubmed-article:8434613 | lifeskim:mentions | umls-concept:C0441471 | lld:lifeskim |
pubmed-article:8434613 | lifeskim:mentions | umls-concept:C0023745 | lld:lifeskim |
pubmed-article:8434613 | lifeskim:mentions | umls-concept:C0733755 | lld:lifeskim |
pubmed-article:8434613 | pubmed:issue | 1 | lld:pubmed |
pubmed-article:8434613 | pubmed:dateCreated | 1993-3-16 | lld:pubmed |
pubmed-article:8434613 | pubmed:abstractText | The absence of recombination between the mutation causing Friedreich ataxia and the two loci which originally assigned the disease locus to chromosome 9 has slowed attempts to isolate and characterize the genetic defect underlying this neurodegenerative disorder. A proximity of less than 1 cM to the linkage group has been proved by the generation of high maximal lod score (Z) to each of the two tightly linked markers D9S15 (Z = 96.69; recombination fraction [theta] = .01) and D9S5 (Z = 98.22; theta = .01). We report here recombination events which indicate that the FRDA locus is located centromeric to the D9S15/D9S5 linkage group, with the most probable order being cen-FRDA-D9S5-D9S15-qter. However, orientation of the markers with respect to the centromere, critical to the positional cloning strategy, remains to be resolved definitively. | lld:pubmed |
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pubmed-article:8434613 | pubmed:language | eng | lld:pubmed |
pubmed-article:8434613 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:8434613 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:8434613 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:8434613 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:8434613 | pubmed:month | Jan | lld:pubmed |
pubmed-article:8434613 | pubmed:issn | 0002-9297 | lld:pubmed |
pubmed-article:8434613 | pubmed:author | pubmed-author:ShawJJ | lld:pubmed |
pubmed-article:8434613 | pubmed:author | pubmed-author:WilliamsonRR | lld:pubmed |
pubmed-article:8434613 | pubmed:author | pubmed-author:HardingA EAE | lld:pubmed |
pubmed-article:8434613 | pubmed:author | pubmed-author:CarvajalJJ | lld:pubmed |
pubmed-article:8434613 | pubmed:author | pubmed-author:ChamberlainSS | lld:pubmed |
pubmed-article:8434613 | pubmed:author | pubmed-author:FarrallMM | lld:pubmed |
pubmed-article:8434613 | pubmed:author | pubmed-author:SirugoGG | lld:pubmed |
pubmed-article:8434613 | pubmed:author | pubmed-author:WilkesDD | lld:pubmed |
pubmed-article:8434613 | pubmed:author | pubmed-author:DoudneyKK | lld:pubmed |
pubmed-article:8434613 | pubmed:author | pubmed-author:HillermanRR | lld:pubmed |
pubmed-article:8434613 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:8434613 | pubmed:volume | 52 | lld:pubmed |
pubmed-article:8434613 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:8434613 | pubmed:authorsComplete | N | lld:pubmed |
pubmed-article:8434613 | pubmed:pagination | 99-109 | lld:pubmed |
pubmed-article:8434613 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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pubmed-article:8434613 | pubmed:year | 1993 | lld:pubmed |
pubmed-article:8434613 | pubmed:articleTitle | Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. | lld:pubmed |
pubmed-article:8434613 | pubmed:affiliation | Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, England. | lld:pubmed |
pubmed-article:8434613 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:8434613 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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