A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy
Myriam Vezain, Bénédicte Gérard, Séverine Drunat, Benoît Funalot, Séverine Fehrenbach, Virginie N'Guyen-Viet, Jean-Michel Vallat, Thierry Frébourg, Mario Tosi, Alexandra Martins, Pascale Saugier-VeberVolume:
32
Year:
2011
Language:
english
Pages:
6
DOI:
10.1002/humu.21528
File:
PDF, 265 KB
english, 2011