MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive neurological disorder manifesting early onset macrocephaly and delayed-onset neurological deterioration. Characteristic radiological findings revealed by brain magnetic resonance imaging are the most important...

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Detalles Bibliográficos
Publicado en:Hum Genome Var
Autores principales: Shimada, Shino, Shimojima, Keiko, Masuda, Teruaki, Nakayama, Yoshiaki, Kohji, Toshihiko, Tsukamoto, Hiroko, Matsubasa, Tadashi, Oka, Akira, Yamamoto, Toshiyuki
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785519/
https://ncbi.nlm.nih.gov/pubmed/27081509
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.19
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