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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Bibliografiske detaljer
Udgivet i:Hum Mol Genet
Main Authors: 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
Sprog:Inglês
Udgivet: Oxford University Press 2020
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General Article
Online adgang: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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