Загрузка...
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...
Сохранить в:
| Главные авторы: | , , , , , , |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Public Library of Science
2014
|
| Предметы: | |
| Online-ссылка: | 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 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|