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Partial Lipodystrophy and LMNA p.R545H Variant

Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tissues and organ systems, and present with heterogeneous clinical and pathological traits. The molecular mechanisms behind these clinical differences and tissue specificity have not been fully clarified. W...

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Detalles Bibliográficos
Autores principales: Magno, Silvia, Ceccarini, Giovanni, Barison, Andrea, Fabiani, Iacopo, Giacomina, Alessandro, Gilio, Donatella, Pelosini, Caterina, Rubegni, Anna, Emdin, Michele, Gatti, Gian Luca, Santorelli, Filippo Maria, Sessa, Maria Rita, Santini, Ferruccio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963176/
https://www.ncbi.nlm.nih.gov/pubmed/33803191
http://dx.doi.org/10.3390/jcm10051142