Article
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.
Clinical chemistry - 1 Nov 2011
Piluso Giulio, Dionisi Manuela, Del Vecchio Blanco Francesca, Torella Annalaura, Aurino Stefania, Savarese Marco, Giugliano Teresa, Bertini Enrico, Terracciano Alessandra, Vainzof Mariz, Criscuolo Chiara, Politano Luisa, Casali Carlo, Santorelli Filippo Maria, Nigro Vincenzo
Abstract excerpt
BACKGROUND: Array-based comparative genomic hybridization (aCGH) is a reference high-throughput technology for detecting large pathogenic or polymorphic copy-number variations in the human genome; however, a number of quantitative monogenic mutations, such as smaller heterozygous deletions or duplications, are usually missed in most disease genes when proper multiplex ligation-dependent probe assays are not...
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