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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis

The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, w...

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Detalles Bibliográficos
Autores Principales: Patiño, Liliana Catherine, Battu, Rajani, Ortega-Recalde, Oscar, Nallathambi, Jeyabalan, Anandula, Venkata Ramana, Renukaradhya, Umashankar, Laissue, Paul
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: 2014
Materias:
Cisteína
Facilitador principal
Dominio de la superfamilia que contiene proteína 8
Proteína estructural
Treonina
Droga no clasificada
Enfermedades
Enfermedades del sistema nervioso
Neurología
Cysteine
Major facilitator superfamily domain containing protein 8
Methionine
Structural protein
Threonine
Unclassified drug
Acceso en línea:https://repository.urosario.edu.co/handle/10336/21733
https://doi.org/10.1371/journal.pone.0109576

Internet

https://repository.urosario.edu.co/handle/10336/21733
https://doi.org/10.1371/journal.pone.0109576

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