Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin

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, named the D8 region, are related to milder phenotypes...

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Detalles Bibliográficos
Autores principales: Capitanio, Daniele, Moriggi, Manuela, Barbacini, Pietro, Torretta, Enrica, Moroni, Isabella, Blasevich, Flavia, Morandi, Lucia, Mora, Marina, Gelfi, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8910510/
https://www.ncbi.nlm.nih.gov/pubmed/35269765
http://dx.doi.org/10.3390/ijms23052624

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8910510/
https://www.ncbi.nlm.nih.gov/pubmed/35269765
http://dx.doi.org/10.3390/ijms23052624

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