Associated Papers
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
32954327 (PubMed )
Supplement: fcaa075_supplementary_data.pdf
Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing.
Cao YY et al.
Chinese Medical Journal, 2018
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
[Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA].
Zhang W et al.
Zhonghua Yi Xue Za Zhi, 2015
Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations.
Bai JL et al.
Genetic Testing and Molecular Biomarkers, 2014
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