Associated Papers
Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
Stringer BW et al.
Embo Molecular Medicine, 2026
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
Zwartkruis MM et al.
Genome Medicine, 2025
40119448 (PubMed )
Supplement: 13073_2025_1448_MOESM7_ESM.xlsx › Sheet1
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle S et al.
Journal of Neuromuscular Diseases, 2023
Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.
Dai M et al.
Molecular Genetics and Genomics : Mgg, 2022
High-throughput screening reveals novel mutations in spinal muscular atrophy patients.
Zhang R et al.
Italian Journal of Pediatrics, 2020
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
Minor spliceosome and disease.
Verma B et al.
Seminars in Cell & Developmental Biology, 2018
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
Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis.
Wang CC et al.
Electrophoresis, 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
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Clermont O et al.
Human Mutation, 2004
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