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Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction
BACKGROUND: PSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia. CASE PRESENTATION: PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4036836/ https://ncbi.nlm.nih.gov/pubmed/24885952 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-14-105 |
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