Associated Papers
Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA.
Qu Y et al.
Heliyon, 2024
Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China.
Hu C et al.
Frontiers in Neurology, 2022
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
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 rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.
Qu YJ et al.
European Journal of Human Genetics : Ejhg, 2016
Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.
Liu WL et al.
Genetics and Molecular Research : Gmr, 2013
Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.
Yu-Jin Q et al.
Bmc Medical Genetics, 2012
[Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
DU J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
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
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.
Sheng-Yuan Z et al.
European Journal of Human Genetics : Ejhg, 2010
[Study of SMN gene in Chinese children with spinal muscular atrophy].
Liu WL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2010
Select a paper to view details