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Example sentences for: dmd

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Additional file B: Details regarding procedure and cost of DHPLC screening, observations regarding the dystrophin gene, and statistics about DMD carrier females.
Dystrophin is a sarcolemmal protein that through its interaction with many other proteins participates in the linkage of the extracellular matrix to the cytoplasmic cytoskeleton [ 2 3 4 ] . Mutations in this gene result in DMD, BMD or other dystrophinopathy.
In parallel, we compared the two corresponding mixed 5-6 yr old DMD profiles to the same 6 mixed control profiles.
Quantitative PCR, FISH (Fluorescent In-Situ Hybridization) or MAPH (see http://www.dmd.nl/DMD_MAPH.html) analysis is still required for detection of female carriers of large deletion/duplication alterations.
We used a combination of direct sequencing and DHPLC to search for mutations in 8 patients with DMD and a carrier sister.