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rdf:type |
|
|
lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
1993-1-7
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pubmed:abstractText |
Myotonic dystrophy results from expansion of a (CTG)n repeat at the 3' untranslated region of the myotonin-protein kinase gene. We show here the genomic analysis of 322 symptomatic patients with the cDNA-25 probe detecting disease specific EcoRI restriction fragments. The expansion was found in the majority of Italian and Spanish patients (92%). The implications of these results for the detection of symptomatic patients in southern Europe are discussed.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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|
pubmed:journal |
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|
pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
0022-2593
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
29
|
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pubmed:geneSymbol |
DM
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
N
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pubmed:pagination |
789-90
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pubmed:dateRevised |
2010-9-7
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pubmed:meshHeading |
pubmed-meshheading:1453428-Adult,
pubmed-meshheading:1453428-Alleles,
pubmed-meshheading:1453428-DNA Mutational Analysis,
pubmed-meshheading:1453428-DNA Probes,
pubmed-meshheading:1453428-Female,
pubmed-meshheading:1453428-Genetics, Population,
pubmed-meshheading:1453428-Humans,
pubmed-meshheading:1453428-Italy,
pubmed-meshheading:1453428-Male,
pubmed-meshheading:1453428-Myotonic Dystrophy,
pubmed-meshheading:1453428-Spain
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|
pubmed:year |
1992
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|
pubmed:articleTitle |
Expansion of the myotonic dystrophy gene in Italian and Spanish patients.
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pubmed:affiliation |
Department of Human Genetics, Tor Vergata University of Rome, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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