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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Autores:

Tipo de recurso:

Fecha de publicación:

2014

Institución:

Universidad del Rosario

Repositorio:

Repositorio EdocUR - U. Rosario

Idioma:

eng

OAI Identifier:

oai:repository.urosario.edu.co:10336/21733

Acceso en línea:

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

Palabra clave:

Cisteína
Facilitador principal
Dominio de la superfamilia que contiene proteína 8
Proteína estructural
Treonina
Droga no clasificada
Enfermedades
Cysteine
Major facilitator superfamily domain containing protein 8
Methionine
Structural protein
Threonine
Unclassified drug
Enfermedades del sistema nervioso
Neurología

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