A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America

dc.creatorPesaola, Favio
dc.creatorSismondi, Inés Adriana
dc.creatorGuelbert, Norberto
dc.creatorKohan, Romina
dc.creatorCarabelos, Noelia
dc.creatorAlonso, Graciela
dc.creatorPons, Patricia
dc.creatorOller Ramírez, Ana María
dc.creatorNoher de Halac, Rita Inés
dc.date.accessioned2021-11-23T16:48:26Z
dc.date.accessioned2022-10-14T18:14:13Z
dc.date.available2021-11-23T16:48:26Z
dc.date.available2022-10-14T18:14:13Z
dc.date.created2021-11-23T16:48:26Z
dc.date.issued2013
dc.identifierhttp://hdl.handle.net/11086/21728
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/4267178
dc.description.abstractNeuronal 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 progressivewith mental retardation (EPMR) of Scandinavia and late infan-tile variant (vLI) phenotype in other countries had not yet beendescribed in Latin America. The change p.Pro229Ala, found inthe DNA of 2 individuals from Argentina and Mexico, was notvalidated as a mutation.
dc.languageeng
dc.rightshttps://creativecommons.org/licenses/by-nc-sa/4.0/
dc.rightsAttribution-NonCommercial-ShareAlike 4.0 International
dc.subjectNeuronal ceroid lipofuscinoses
dc.subjectCln8
dc.subjectValidation-new mutations
dc.subjectBioinformatics
dc.titleA novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America
dc.typeconferenceObject


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