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Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy.
Ulgenalp, Ayfer; Giray, Ozlem; Bora, Elçin; Hizli, Tülin; Kurul, Semra; Sagin-Saylam, Gül; Karasoy, Hatice; Uran, Nedret; Dizdarer, Gülsen; Tütüncüoglu, Sarenur; Dirik, Eray; Ozkinay, Ferda; Erçal, Derya.
Afiliación
  • Ulgenalp A; Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
Turk J Pediatr ; 46(4): 333-8, 2004.
Article en En | MEDLINE | ID: mdl-15641267
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.
Asunto(s)
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofina / Eliminación de Gen / Distrofia Muscular de Duchenne Límite: Adolescent / Adult / Child / Humans Idioma: En Revista: Turk J Pediatr Año: 2004 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofina / Eliminación de Gen / Distrofia Muscular de Duchenne Límite: Adolescent / Adult / Child / Humans Idioma: En Revista: Turk J Pediatr Año: 2004 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía