Abstract
We utilized a heteroduplex method to screen for small mutations in Duchenne muscular dystrophy patients who did not have deletions or duplications. A dystrophin exon 53 heteroduplex band was identified in 14.4% of the affected patients. Direct sequencing of the amplified product from DNA producing the heteroduplex revealed the presence of a polymorphism in the coding region. The codon for asparagine was converted from AAT to AAC.
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Prior, T.W., Papp, A.C., Snyder, P.J. et al. Detection of an exon 53 polymorphism in the dystrophin gene. Hum Genet 92, 302–304 (1993). https://doi.org/10.1007/BF00244477
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DOI: https://doi.org/10.1007/BF00244477