Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding

Seipin, encoded by the BSCL2 gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in BSCL2 can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases, or progressive encephalopathy, with a poor progn...

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Detalles Bibliográficos
Autores principales: Sánchez-Iglesias, Sofía, Fernández-Pombo, Antía, Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Alarcón-Martínez, Helena, Domingo-Jiménez, Rosario, Ruíz Riquelme, Alejandro Iván, Requena, Jesús R., Araújo-Vilar, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8037292/
https://www.ncbi.nlm.nih.gov/pubmed/33916074
http://dx.doi.org/10.3390/jcm10071435

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8037292/
https://www.ncbi.nlm.nih.gov/pubmed/33916074
http://dx.doi.org/10.3390/jcm10071435

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