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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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Dades bibliogràfiques
Publicat a:J Clin Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7963176/
https://ncbi.nlm.nih.gov/pubmed/33803191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm10051142
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