Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls

This study details the clinical and cellular phenotypes associated with two missense heterozygous mutations in LMNA, c.1745G>T p.(Arg582Leu), and c.1892G>A p.(Gly631Asp), in two patients with early onset of diabetes mellitus, hypertriglyceridemia and non-alcoholic fatty liver disease. In these...

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Detalles Bibliográficos
Autores principales: Desgrouas, Camille, Varlet, Alice-Anaïs, Dutour, Anne, Galant, Damien, Merono, Françoise, Bonello-Palot, Nathalie, Bourgeois, Patrice, Lasbleiz, Adèle, Petitjean, Cathy, Ancel, Patricia, Levy, Nicolas, Badens, Catherine, Gaborit, Bénédicte
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072715/
https://www.ncbi.nlm.nih.gov/pubmed/32012908
http://dx.doi.org/10.3390/cells9020310

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072715/
https://www.ncbi.nlm.nih.gov/pubmed/32012908
http://dx.doi.org/10.3390/cells9020310

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