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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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: Elorza-Vidal, Xabier, Xicoy-Espaulella, Efren, Pla-Casillanis, Adrià, Alonso-Gardón, Marta, Gaitán-Peñas, Héctor, Engel-Pizcueta, Carolyn, Fernández-Recio, Juan, Estévez, Raúl
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
Matèries:
General Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7206653/
https://ncbi.nlm.nih.gov/pubmed/31960914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa009
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