FA2H-related disorders: A novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

Autor:	Garone, C, Pippucci, T, Cordelli, Dm, Zuntini, R, Castegnaro, G, Marconi, C, Graziano, C, Marchiani, V, VERROTTI DI PIANELLA, Alberto, Seri, M, Franzoni, E.
Jazyk:	angličtina
Rok vydání:	2011
Předmět:	Male Adolescent DNA Mutational Analysis Neurodegenerative Diseases Perinatology and Child Health Magnetic Resonance Imaging Pediatrics Mixed Function Oxygenases Young Adult Developmental Neuroscience Mutation Humans Neurology (clinical) Follow-Up Studies Pediatrics Perinatology and Child Health
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f7717ff80eb1c1f43afcb52b51eb5827 http://hdl.handle.net/11697/125252 Zobrazit plný text záznamu