Associated Papers
Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay.
Zhang M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
[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
Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china.
Zeng J et al.
The Journal of Molecular Diagnostics : Jmd, 2011
Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis.
Wang CC et al.
Electrophoresis, 2010
Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S et al.
Expert Review of Molecular Diagnostics, 2004
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S et al.
Human Genetics, 2002
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