Associated Papers
Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.
Gao S et al.
Orphanet Journal of Rare Diseases, 2025
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
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
Kirwin SM et al.
Molecular Genetics & Genomic Medicine, 2013
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