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Browsing 04.University Medical Center by Subject "heterozygous deletions"

Browsing 04.University Medical Center by Subject "heterozygous deletions"

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  • Fast detection of deletion breakpoints using quantitative PCR 
    Abildinova, Gulshara; Abdrakhmanova, Zhanara; Tuchinsky, Helena; Nesher, Elimelech; Pinhasov, Albert; Raskin, Leon (Genetics and Molecular Biology, 2016)
    The routine detection of large and medium copy number variants (CNVs) is well established. Hemizygotic deletions or duplications in the large Duchenne muscular dystrophyDMD gene responsible for Duchenne and Becker muscular ...