|
 Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level. Genet Test. 11: 199-207.
de SIALA O. , Ahmed Rebai, LOUHICHI N., TRIKI C., MORINIÈRE M., RICHARD P., GUICHENEY P., BAKLOUTI F. , FAKHFAKH F.
2007 Résumé
Références
|