Associated Papers
Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.
Niri F et al.
International Journal of Neonatal Screening, 2023
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.
Qu YJ et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients.
Jędrzejowska M et al.
Neuromuscular Disorders : Nmd, 2014
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