Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

Celia’s encephalopathy (Progressive Encephalopathy with/without Lipodystrophy, PELD) is a childhood neurodegenerative disorder with a fatal prognosis before the age of 10, due to the variant c.985C>T in the BSCL2 gene that causes a cryptic splicing site leading to skipping of exon 7. For years, d...

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Publicado no:Neurogenetics
Main Authors: Sánchez-Iglesias, Sofía, Crocker, Melissa, O’Callaghan, Mar, Darling, Alejandra, García-Cazorla, Angels, Domingo-Jiménez, Rosario, Castro, Ana, Fernández-Pombo, Antía, Ruibal, Álvaro, Aguiar, Pablo, Garrido-Pumar, Miguel, Rodríguez-Núñez, Antonio, Álvarez-Escudero, Julián, Brown, Rebecca J., Araújo-Vilar, David
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7288395/
https://ncbi.nlm.nih.gov/pubmed/30903322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-019-00574-5
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