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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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| Prif Awduron: | , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
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Public Library of Science
2014
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| Pynciau: | |
| Mynediad Ar-lein: | 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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