A novel copy number variation detection array for the diagnostics of neuromuscular disorders

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Nemaline myopathy (NM) is caused by mutations in at least eleven different genes, but most commonly by recessive mutations in the nebulin gene (NEB), a 183 exon gene essential for correct sarcomere structure and function. NEB harbors a 32 kb triplicate region (TRI), in which eight exons are usually typically repeated three times (ex 82–89, 90–97, 98–105), and is prone for copy number variation (CNV). We have designed and validated a new custom-made 4x180k comparative genomic hybridization array (aCGH) design.

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