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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
|
pubmed:dateCreated |
1992-3-18
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pubmed:abstractText |
A new screening method involving the multiplex polymerase chain reaction was developed to detect dystrophin gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy (DMD/BMD). Eleven exonic regions including deletion "hot spots" were analyzed. Gene deletions were found in 33% of 92 unrelated Japanese patients, mainly in the central portion (exons 43-52) and at the 5' end (exons 1-17). This is a useful laboratory test for the rapid genetic diagnosis of DMD/BMD.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0387-7604
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
13
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
339-42
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:1785656-Asian Continental Ancestry Group,
pubmed-meshheading:1785656-Base Sequence,
pubmed-meshheading:1785656-Chromosome Deletion,
pubmed-meshheading:1785656-Dystrophin,
pubmed-meshheading:1785656-Humans,
pubmed-meshheading:1785656-Male,
pubmed-meshheading:1785656-Molecular Sequence Data,
pubmed-meshheading:1785656-Muscular Dystrophies,
pubmed-meshheading:1785656-Oligonucleotide Probes,
pubmed-meshheading:1785656-Polymerase Chain Reaction,
pubmed-meshheading:1785656-Reference Values
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pubmed:year |
1991
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pubmed:articleTitle |
A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.
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pubmed:affiliation |
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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