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DNM1 encephalopathy: A new disease of vesicle fission
OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 pa...
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Publicado no: | Neurology |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Lippincott Williams & Wilkins
2017
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5574673/ https://ncbi.nlm.nih.gov/pubmed/28667181 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000004152 |
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