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CLN6 disease caused by the same mutation originating in Pakistan has varying pathology

The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative diseases in children, are characterised by storage of autofluorescent material that has a characteristic ultrastructure. We report two families with variant late infantile NCL, both originating from Pakistan. Probands from...

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Detalles Bibliográficos
Autores principales:	Guerreiro, Rita, Bras, Jose T., Vieira, Mariana, Warrier, Varun, Agrawal, Shakti, Stewart, Helen, Anderson, Glenn, Mole, Sara E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Saunders 2013
Materias:	Case Study
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847240/ https://www.ncbi.nlm.nih.gov/pubmed/23735787 http://dx.doi.org/10.1016/j.ejpn.2013.04.011

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