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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Detaylı Bibliyografya
Yayımlandı:Hum Mol Genet
Asıl Yazarlar: Elorza-Vidal, Xabier, Xicoy-Espaulella, Efren, Pla-Casillanis, Adrià, Alonso-Gardón, Marta, Gaitán-Peñas, Héctor, Engel-Pizcueta, Carolyn, Fernández-Recio, Juan, Estévez, Raúl
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2020
Konular:
General Article
Online Erişim: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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