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AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria
Autores principales: | Carmona, Susana, Marecos, Clara, Amorim, Marta, Ferreira, Ana C., Conceição, Carla, Brás, José, Duarte, Sofia T., Guerreiro, Rita |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167175/ https://www.ncbi.nlm.nih.gov/pubmed/30283821 http://dx.doi.org/10.1212/NXG.0000000000000273 |
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