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pro vyhledávání: '"Celia Pérez-Sousa"'
Autor:
Jordi Gascón-Bayarri, Petru Cristian Simon, Roser Llop, Thiago Carnaval, María Dolores Ledesma, Imma Rico, Cristina Sánchez-Castañeda, Jaume Campdelacreu-Fumadó, Nahum Calvo-Malvar, Mònica Cos, Eugenia de Lama, Montserrat Cortés-Romera, Laura Rodríguez-Bel, Celia Pérez-Sousa, María Cerdán Sánchez, Nuria Muelas, María Dolores Sevillano, Pablo Mir, Adolfo López de Munain, Anna Ferrer, Sebastián Videla
[Background] Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. This orphan disease is most frequently caused by mutations in the NPC1 protein, resulting in intralysossomal cholesterol accumulation. NPC1 is found i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a04d0315f0d7d73f664a47faca42569
http://hdl.handle.net/10810/59488
http://hdl.handle.net/10810/59488