|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
1993-6-18
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|
pubmed:abstractText |
The expression of myotonin-protein kinase (MT-PK) gene was studied in myotonic dystrophy (DM) muscle and normal controls using a polymerase chain reaction protocol to analyse the 3' intragenic p(CTG) polymorphism. Unaffected individuals show bi-allelic expression, while the sole wild-type allele was transcribed in DM muscle. Our findings support a gene dosage effect in the pathogenesis of the disease.
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Feb
|
|
pubmed:issn |
1039-9712
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
29
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
291-7
|
|
pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:8495213-Adult,
pubmed-meshheading:8495213-Alleles,
pubmed-meshheading:8495213-Blotting, Southern,
pubmed-meshheading:8495213-DNA,
pubmed-meshheading:8495213-Electrophoresis, Polyacrylamide Gel,
pubmed-meshheading:8495213-Fetus,
pubmed-meshheading:8495213-Gene Expression Regulation, Enzymologic,
pubmed-meshheading:8495213-Humans,
pubmed-meshheading:8495213-Muscles,
pubmed-meshheading:8495213-Mutation,
pubmed-meshheading:8495213-Myotonic Dystrophy,
pubmed-meshheading:8495213-Polymerase Chain Reaction,
pubmed-meshheading:8495213-Polymorphism, Genetic,
pubmed-meshheading:8495213-Protein Kinases,
pubmed-meshheading:8495213-Protein-Serine-Threonine Kinases,
pubmed-meshheading:8495213-RNA, Messenger,
pubmed-meshheading:8495213-Transcription, Genetic
|
|
pubmed:year |
1993
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|
pubmed:articleTitle |
Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.
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|
pubmed:affiliation |
Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|
