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A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

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https://hal-normandie-univ.archives-ouvertes.fr/hal-02336380
Contributor : Alexandra Martins <>
Submitted on : Monday, October 28, 2019 - 5:53:12 PM
Last modification on : Friday, November 22, 2019 - 4:25:24 PM

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Myriam Vezain, Pascale Saugier-Veber, Elisa Goina, Renaud Touraine, Vã©ronique Manel, et al.. A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy. Human Mutation, Wiley, 2010, 31 (1), pp.E1110-E1125. ⟨10.1002/humu.21173⟩. ⟨hal-02336380⟩

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