c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
http://link.springer.com/article/10.1007/s12031-018-1079-1/fulltext.html
Reference19 articles.
1. Alias L et al (2009) Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet 125:29–39. https://doi.org/10.1007/s00439-008-0598-1
2. Clermont O, Burlet P, Benit P, Chanterau D, Saugier-Veber P, Munnich A, Cusin V (2004) Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. Hum Mutat 24:417–427. https://doi.org/10.1002/humu.20092
3. De Sanctis R et al (2016) Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord 26:754–759. https://doi.org/10.1016/j.nmd.2016.10.002
4. Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B (2002) Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70:358–368. https://doi.org/10.1086/338627
5. Ganji H, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M (2014) Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1. J Child Neurol 30:558–562. https://doi.org/10.1177/0883073814521297
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1. 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;Global Medical Genetics;2023-08-31
2. Update on Biomarkers in Spinal Muscular Atrophy;Biomarker Insights;2021-01
3. 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;Journal of Molecular Neuroscience;2020-08-18
4. High-throughput analysis revealed mutations’ diverging effects on SMN1 exon 7 splicing;RNA Biology;2019-06-19
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