Quick MLPA test for quantification of SMN1 and SMN2 copy numbers
Nadia Passon, Giorgia Dubsky de Wittenau, Irena Jurman, Slobodanka Radović, Elisa Bregant, Cristiano Molinis, Giuseppe Damante, Incoronata Renata Lonigro
Abstract
Nadia Passon, Giorgia Dubsky de Wittenau, Irena Jurman, Slobodanka Radović, Elisa Bregant, Cristiano Molinis, Giuseppe Damante, Incoronata Renata Lonigro
Abstract
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Key concepts: SMN1, Multiplex ligation-dependent probe amplification, Biology, Spinal muscular atrophy, Gene dosage, SMA*, Copy-number variation, Multiplex