Article
Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns.
Neurology India - 1 Jan 2000
Dama Tavisha, Chheda Pratiksha, Limaye Shweta, Pande Shailesh, Vinarkar Sushant
Abstract excerpt
Background: Oftentimes, a variation at the multiplex ligation-dependent probe amplification (MLPA) probe binding site leads to improper hybridrization/ligation of the probe showing up as a deletion of an exon leading to false positive results for the detection of Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD). Objective: Investigating cases with single exon deletion using an alternate method...
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