| pubmed-article:2063878 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:2063878 | lifeskim:mentions | umls-concept:C0027126 | lld:lifeskim |
| pubmed-article:2063878 | lifeskim:mentions | umls-concept:C1708726 | lld:lifeskim |
| pubmed-article:2063878 | lifeskim:mentions | umls-concept:C1511790 | lld:lifeskim |
| pubmed-article:2063878 | lifeskim:mentions | umls-concept:C0012872 | lld:lifeskim |
| pubmed-article:2063878 | lifeskim:mentions | umls-concept:C0023746 | lld:lifeskim |
| pubmed-article:2063878 | lifeskim:mentions | umls-concept:C1882417 | lld:lifeskim |
| pubmed-article:2063878 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:2063878 | pubmed:dateCreated | 1991-8-2 | lld:pubmed |
| pubmed-article:2063878 | pubmed:abstractText | We have examined the linkage of two new polymorphic DNA markers (D19S62 and D19S63) and a previously unreported polymorphism with an existing DNA marker (ERCC1) to the myotonic dystrophy (DM) locus. In addition, we have used pulsed-field gel electrophoresis to obtain a fine-structure map of this region. The detection of linkage disequilibrium between DM and one of these markers (D19S63) is the first demonstration of this phenomenon in a heterogeneous DM population. The results suggest that at least 58% of DM patients in the British population, as well as those in a French-Canadian subpopulation, are descended from the same ancestral DM mutation. We discuss the implications of this finding in terms of strategies for cloning the DM gene, for a possible role in modification of risk for prenatal and presymptomatic testing, and we speculate on the origin and number of existing mutations which may result in a DM phenotype. | lld:pubmed |
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| pubmed-article:2063878 | pubmed:language | eng | lld:pubmed |
| pubmed-article:2063878 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2063878 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:2063878 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2063878 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:2063878 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:2063878 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:2063878 | pubmed:author | pubmed-author:HarperP SPS | lld:pubmed |
| pubmed-article:2063878 | pubmed:author | pubmed-author:ThibaultM CMC | lld:pubmed |
| pubmed-article:2063878 | pubmed:author | pubmed-author:CronJJ | lld:pubmed |
| pubmed-article:2063878 | pubmed:author | pubmed-author:FloydJJ | lld:pubmed |
| pubmed-article:2063878 | pubmed:author | pubmed-author:ShawD JDJ | lld:pubmed |
| pubmed-article:2063878 | pubmed:author | pubmed-author:BrookJ DJD | lld:pubmed |
| pubmed-article:2063878 | pubmed:author | pubmed-author:HarleyH GHG | lld:pubmed |
| pubmed-article:2063878 | pubmed:author | pubmed-author:RundleS ASA | lld:pubmed |
| pubmed-article:2063878 | pubmed:author | pubmed-author:WalshK VKV | lld:pubmed |
| pubmed-article:2063878 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:2063878 | pubmed:volume | 49 | lld:pubmed |
| pubmed-article:2063878 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:2063878 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:2063878 | pubmed:pagination | 68-75 | lld:pubmed |
| pubmed-article:2063878 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:2063878 | pubmed:year | 1991 | lld:pubmed |
| pubmed-article:2063878 | pubmed:articleTitle | Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. | lld:pubmed |
| pubmed-article:2063878 | pubmed:affiliation | Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, United Kingdom. | lld:pubmed |
| pubmed-article:2063878 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:2063878 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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