Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy

Vidal-Folch, N; Gavrilov, D; Raymond, K; Rinaldo, P; Tortorelli, S; Matern, D; Oglesbee, D

Oglesbee, D (reprint author), Mayo Clin, Dept Lab Med & Pathol, Biochem Genet Lab, 200 First St SW, Rochester, MN 55905 USA.

CLINICAL CHEMISTRY, 2018; 64 (12): 1753

Abstract

BACKGROUND: Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder with neuronal degeneration leading to muscular atrophy and respirato......

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