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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2005-1-11
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pubmed:abstractText |
We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.
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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 |
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pubmed:status |
MEDLINE
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pubmed:issn |
0041-4301
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pubmed:author |
pubmed-author:BoraElçinE,
pubmed-author:DirikErayE,
pubmed-author:DizdarerGül?enG,
pubmed-author:ErçalDeryaD,
pubmed-author:GirayOzlemO,
pubmed-author:HizliTülinT,
pubmed-author:KarasoyHaticeH,
pubmed-author:KurulSemraS,
pubmed-author:OzkinayFerdaF,
pubmed-author:Sa?in-SaylamGülG,
pubmed-author:Tütüncüo?luSarenurS,
pubmed-author:UlgenalpAyferA,
pubmed-author:UranNedretN
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pubmed:issnType |
Print
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pubmed:volume |
46
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
333-8
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pubmed:meshHeading |
pubmed-meshheading:15641267-Adolescent,
pubmed-meshheading:15641267-Adult,
pubmed-meshheading:15641267-Child,
pubmed-meshheading:15641267-Dystrophin,
pubmed-meshheading:15641267-Exons,
pubmed-meshheading:15641267-Family Health,
pubmed-meshheading:15641267-Gene Deletion,
pubmed-meshheading:15641267-Genotype,
pubmed-meshheading:15641267-Humans,
pubmed-meshheading:15641267-Introns,
pubmed-meshheading:15641267-Muscular Dystrophy, Duchenne,
pubmed-meshheading:15641267-Phenotype
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pubmed:articleTitle |
Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy.
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pubmed:affiliation |
Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
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pubmed:publicationType |
Journal Article
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