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  • Title: The use of field-inversion gel electrophoresis for deletion detection in Duchenne muscular dystrophy.
    Author: Chen JD, Denton MJ, Morgan G, Pearn JH, Mackinlay AG.
    Journal: Am J Hum Genet; 1988 May; 42(5):777-80. PubMed ID: 3358426.
    Abstract:
    Deletion is a common cause of Duchenne muscular dystrophy (DMD). Field-inversion gel electrophoresis, in conjunction with Southern blot hybridization, was used to detect large SfiI DNA fragments in the DMD locus. Two unrelated boys with DMD were found to have abnormal sized DNA fragments resulting from deletions. Some of the female relatives of these patients were also shown by this method to have deletions in the DMD locus.
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