Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy

Autor:	Ülgenalp A., Giray Ö., Bora E., Hizli T., Kurul S., Sagin-Saylam G., Karasoy H., Uran N., Dizdarer G., Tütüncüoglu S., Dirik E., Özkınay F., Erçal D.
Přispěvatelé:	Ege Üniversitesi
Jazyk:	angličtina
Rok vydání:	2004
Předmět:	ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS ComputingMethodologies_PATTERNRECOGNITION Gene promoter mutation ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS Dystrophinopathy InformationSystems_MISCELLANEOUS Clinical correlation Deletion analysis
Popis:	PubMed ID: 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bb0c9c5a818f7dede01f9218d3572422 https://avesis.deu.edu.tr/publication/details/9558fffa-6cc8-4831-973e-6cb5ca161c10/oai Zobrazit plný text záznamu