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pro vyhledávání: '"Gelfi, Daniele Capitanio"'
Autor:
Gelfi, Daniele Capitanio, Manuela Moriggi, Pietro Barbacini, Enrica Torretta, Isabella Moroni, Flavia Blasevich, Lucia Morandi, Marina Mora, Cecilia
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 5; Pages: 2624
BMD is characterized by a marked heterogeneity of gene mutations resulting in many abnormal dystrophin proteins with different expression and residual functions. The smaller dystrophin molecules lacking a portion around exon 48 of the rod domain, nam