Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a type of leukodystrophy characterized by white matter edema, and it is caused mainly by recessive mutations in MLC1 and GLIALCAM genes. These variants are called MLC1 and MLC2A with both types of patients sharing the same clinical...

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Detalles Bibliográficos
Autores principales: Elorza-Vidal, Xabier, Xicoy-Espaulella, Efren, Pla-Casillanis, Adrià, Alonso-Gardón, Marta, Gaitán-Peñas, Héctor, Engel-Pizcueta, Carolyn, Fernández-Recio, Juan, Estévez, Raúl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206653/
https://www.ncbi.nlm.nih.gov/pubmed/31960914
http://dx.doi.org/10.1093/hmg/ddaa009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206653/
https://www.ncbi.nlm.nih.gov/pubmed/31960914
http://dx.doi.org/10.1093/hmg/ddaa009

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