Article
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing.
Analytical biochemistry - 15 Nov 2010
Bonnal Raoul Jean Pierre, Severgnini Marco, Castaldi Alessandra, Bordoni Roberta, Iacono Michele, Trimarco Amelia, Torella Annalaura, Piluso Giulio, Aurino Stefania, Condorelli Gianluigi, De Bellis Gianluca, Nigro Vincenzo
Abstract excerpt
The X-linked dystrophin gene is well known for its involvement in Duchenne/Becker muscular dystrophies and for its exceptional megabase size. This locus at Xp21 is prone to frequent random molecular changes, including large deletions and duplications, but also smaller variations. To cope with such huge sequence analysis requirements in forthcoming diagnostic applications, we employed the power of the parallel 454...
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