Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-022-02473-6.pdf
Reference71 articles.
1. Akman HO, Davidzon G, Tanji K et al (2010) Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. Neuromuscul Disord 20:397–402. https://doi.org/10.1016/j.nmd.2010.04.004
2. Alías L, Bernal S, Fuentes-Prior P 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
3. Blasco-Pérez L, Paramonov I, Leno J et al (2021) Beyond copy number: a new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients. Hum Mutat 42:787–795. https://doi.org/10.1002/humu.24200
4. Brett M, Korovesis G, Lai AHM et al (2017) Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event. J Hum Genet 62:711–715. https://doi.org/10.1038/jhg.2017.32
5. Burghes AH (1997) When is a deletion not a deletion? When it is converted. Am J Hum Genet 61:9–15. https://doi.org/10.1086/513913
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