A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America
Fil: Pesaola, Favio. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
| Main Authors: | , , , , , , , , |
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| Format: | conferenceObject |
| Language: | eng |
| Published: |
2021
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| Online Access: | http://hdl.handle.net/11086/21728 |
| _version_ | 1801211544581701632 |
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| 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 |
| collection | Repositorio Digital Universitario |
| description | Fil: Pesaola, Favio. Centro de Estudio de las Metabolopatías Congénitas; Argentina. |
| format | conferenceObject |
| id | rdu-unc.21728 |
| institution | Universidad Nacional de Cordoba |
| language | eng |
| publishDate | 2021 |
| record_format | dspace |
| spelling | rdu-unc.217282021-11-24T09:30:02Z A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America Pesaola, Favio Sismondi, Inés Adriana Guelbert, Norberto Kohan, Romina Carabelos, Noelia Alonso, Graciela Pons, Patricia Oller Ramírez, Ana María Noher de Halac, Rita Inés Neuronal ceroid lipofuscinoses Cln8 Validation-new mutations Bioinformatics Fil: Pesaola, Favio. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Sismondi, Inés Adriana. Universidad Nacional de Córdoba. Facultad de Odontología; Argentina. Fil: Guelbert, Norberto. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Kohan, Romina. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Carabelos, Noelia. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Alonso, Graciela. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Pons, Patricia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Microscopia Electrónica; Argentina Fil: Oller Ramírez, Ana María. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Noher de Halac, Rita Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Estudios en Comunicación, Expresión y Tecnologías; Argentina. 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. Fil: Pesaola, Favio. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Sismondi, Inés Adriana. Universidad Nacional de Córdoba. Facultad de Odontología; Argentina. Fil: Guelbert, Norberto. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Kohan, Romina. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Carabelos, Noelia. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Alonso, Graciela. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Pons, Patricia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Microscopia Electrónica; Argentina Fil: Oller Ramírez, Ana María. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Noher de Halac, Rita Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Estudios en Comunicación, Expresión y Tecnologías; Argentina. Bioquímica y Biología Molecular (ídem 1.6.3) 2021-11-23T16:48:26Z 2021-11-23T16:48:26Z 2013 conferenceObject http://hdl.handle.net/11086/21728 eng Attribution-NonCommercial-ShareAlike 4.0 International https://creativecommons.org/licenses/by-nc-sa/4.0/ Impreso |
| 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 |
| title | 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_short | 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 |
| topic | Neuronal ceroid lipofuscinoses Cln8 Validation-new mutations Bioinformatics |
| url | http://hdl.handle.net/11086/21728 |
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