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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Bibliografski detalji
Izdano u:Hum Mol Genet
Glavni autori: 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
Jezik:Inglês
Izdano: Oxford University Press 2020
Teme:
General Article
Online pristup: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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