A rare SMN2 variant in a previously unrecognized composite...

Human Mutation 2010 Vol. 31; Iss. 1

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

Myriam Vezain, Pascale Saugier-Veber, Elisa Goina, Renaud Touraine, Véronique Manel, Annick Toutain, Séverine Fehrenbach, Thierry Frébourg, Franco Pagani, Mario Tosi, Alexandra Martins
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Volume:
31
Year:
2010
Language:
english
Pages:
1
DOI:
10.1002/humu.21173
File:
PDF, 405 KB
english, 2010
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