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Mottled Mice and Non-Mammalian Models of Menkes Disease
Menkes disease is a multi-systemic copper metabolism disorder caused by mutations in the X-linked ATP7A gene and characterized by progressive neurodegeneration and severe connective tissue defects. The ATP7A protein is a copper (Cu)-transporting ATPase expressed in all tissues and plays a critical r...
Autores principales: | Lenartowicz, Małgorzata, Krzeptowski, Wojciech, Lipiński, Paweł, Grzmil, Paweł, Starzyński, Rafał, Pierzchała, Olga, Møller, Lisbeth Birk |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4684000/ https://www.ncbi.nlm.nih.gov/pubmed/26732058 http://dx.doi.org/10.3389/fnmol.2015.00072 |
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