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

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 progressivewith mental retardation (EPMR) of Scandinavia and late infan-tile...

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Autores principales:	Pesaola, Favio, Sismondi, Inés Adriana, Guelbert, Norberto, Kohan, Romina, Carabelos, Noelia, Alonso, Graciela, Pons, Patricia, Oller Ramírez, Ana María, Noher de Halac, Rita Inés
Formato:	conferenceObject
Lenguaje:	Inglés
Publicado:	2021
Materias:	Neuronal ceroid lipofuscinoses Cln8 Validation-new mutations Bioinformatics
Acceso en línea:	http://hdl.handle.net/11086/21728
Aporte de:	Repositorio Digital Universitario (UNC) de Universidad Nacional de Córdoba

id	I10-R14111086-21728
record_format	dspace
institution	Universidad Nacional de Córdoba
institution_str	I-10
repository_str	R-141
collection	Repositorio Digital Universitario (UNC)
language	Inglés
topic	Neuronal ceroid lipofuscinoses Cln8 Validation-new mutations Bioinformatics
spellingShingle	Neuronal ceroid lipofuscinoses Cln8 Validation-new mutations Bioinformatics Pesaola, Favio Sismondi, Inés Adriana Guelbert, Norberto Kohan, Romina Carabelos, Noelia Alonso, Graciela Pons, Patricia Oller Ramírez, Ana María Noher de Halac, Rita Inés A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America
topic_facet	Neuronal ceroid lipofuscinoses Cln8 Validation-new mutations Bioinformatics
description	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 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.
format	conferenceObject
author	Pesaola, Favio Sismondi, Inés Adriana Guelbert, Norberto Kohan, Romina Carabelos, Noelia Alonso, Graciela Pons, Patricia Oller Ramírez, Ana María Noher de Halac, Rita Inés
author_facet	Pesaola, Favio Sismondi, Inés Adriana Guelbert, Norberto Kohan, Romina Carabelos, Noelia Alonso, Graciela Pons, Patricia Oller Ramírez, Ana María Noher de Halac, Rita Inés
author_sort	Pesaola, Favio
title	A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America
title_short	A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America
title_full	A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America
title_fullStr	A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America
title_full_unstemmed	A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America
title_sort	novel cln8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in latin america
publishDate	2021
url	http://hdl.handle.net/11086/21728
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A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America

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