Associated Papers
Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.
Gao S et al.
Orphanet Journal of Rare Diseases, 2025
Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS.
Xing X et al.
The Analyst, 2024
Lessons from Real Life Experience: Importance of In-House Sequencing and Smart Ratio-Based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Diagnosis for Spinal Muscular Atrophy: Bench to Bedside Diagnosis.
Tuncel G et al.
Global Medical Genetics, 2023
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
Bai J et al.
Journal of Molecular Neuroscience : Mn, 2021
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
c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.
Wu S et al.
Journal of Molecular Neuroscience : Mn, 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
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