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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Bibliografiska uppgifter
I publikationen:Hum Mol Genet
Huvudupphovsmän: Elorza-Vidal, Xabier, Xicoy-Espaulella, Efren, Pla-Casillanis, Adrià, Alonso-Gardón, Marta, Gaitán-Peñas, Héctor, Engel-Pizcueta, Carolyn, Fernández-Recio, Juan, Estévez, Raúl
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2020
Ämnen:
General Article
Länkar: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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