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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Hlavní autoři: Patiño, Liliana Catherine, Battu, Rajani, Ortega-Recalde, Oscar, Nallathambi, Jeyabalan, Anandula, Venkata Ramana, Renukaradhya, Umashankar, Laissue, Paul
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2014
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4198115/
https://ncbi.nlm.nih.gov/pubmed/25333361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0109576
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