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Example sentences for: dmd

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To look for point mutations, eight patients were chosen as test cases based on the absence of dystrophin, clinical symptoms consistent with DMD and no large deletion or duplication detected by the multiplexed PCR test.
To test the sensitivity and specificity of sample mixing versus individual profiling, we defined differentially expressed genes using a two group t-test (GeneSpring [ 28 29 ] ), comparing all 6 mixed control profiles and the 10 individual 5-6 yr old DMD profiles.
In parallel, the mixed DMD duplicate profiles were compared to a single pair of mixed control sample profiles (c1a, c1b), using the pairwise comparison survival method [ 23 ] . Briefly, four comparisons were done (DMD 1a versus control 1a; DMD1b versus control 1a; DMD 1a versus control 1b; DMD1b versus control 1b), and only those genes retained which showed >2-fold change in all four comparisons.
The DMD gene spans 2.4 million base pairs of genomic DNA on the X chromosome and its 14 kb transcript encodes a full-length protein (dystrophin) of 427 kiloDaltons.
DMD: Duchenne Muscular Dystrophy