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• W2050898161 abstract "Recent developments have yielded new technologies that have greatly simplified the detection of deletions and duplications, i.e., copy number variants (CNVs). These technologies can be used to screen for CNVs in and around specific genomic regions, as well as genome-wide. Several genome-wide studies have demonstrated that CNV in the human genome is widespread and may include millions of nucleotides. One of the questions that emerge is which sequences, structures and/or processes are involved in their generation. Using as an example the human <i>DMD</i> gene, mutations in which cause Duchenne and Becker muscular dystrophy, we review the current data, determine the deletion and duplication profile across the gene and summarize the information that has been collected regarding their origin. In addition we discuss the methods most frequently used for their detection, in particular MAPH and MLPA." @default.
• W2050898161 created "2016-06-24" @default.
• W2050898161 creator A5026571233 @default.
• W2050898161 creator A5040120668 @default.
• W2050898161 date "2006-01-01" @default.
• W2050898161 modified "2023-09-27" @default.
• W2050898161 title "Copy number variation in the genome; the human <i>DMD</i> gene as an example" @default.
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• W2050898161 doi "https://doi.org/10.1159/000095920" @default.
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