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  • Title: Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy.
    Author: Ulgenalp A, Giray O, Bora E, Hizli T, Kurul S, Sağin-Saylam G, Karasoy H, Uran N, Dizdarer G, Tütüncüoğlu S, Dirik E, Ozkinay F, Erçal D.
    Journal: Turk J Pediatr; 2004; 46(4):333-8. PubMed ID: 15641267.
    Abstract:
    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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