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 - Normandie Université Access content directly
Journal Articles Human Mutation Year : 2010

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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hal-02336380 , version 1 (28-10-2019)

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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, 2010, 31 (1), pp.E1110-E1125. ⟨10.1002/humu.21173⟩. ⟨hal-02336380⟩
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