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Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer
BACKGROUND: Patients with Gaucher Disease (GD) exhibit three phenotypes, including type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). AIM: Identifying which GBA changes represent benign polymorphisms and which may result in disease-causing mutations is ess...
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| Publicat a: | J Neurol |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Berlin Heidelberg
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6342868/ https://ncbi.nlm.nih.gov/pubmed/30382391 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-018-9084-4 |
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