Browsing Facultad de Ciencias Médicas by Subject "Neuronal ceroid lipofuscinoses"
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A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America
(2013)Neuronal ceroid lipofuscinosis (NCL), inheritedneurodegenerative diseases of all ages, presents with storage oflipofuscin-like lipopigments in cerebral neurons and peripheraltissues. Mutations in CLN8 gene causing epilepsy ...