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Evidence of an Asymmetrical Endophenotype in Congenital Fibrosis of Extraocular Muscles Type 3 Resulting from TUBB3 Mutations
PURPOSE. Orbital magnetic resonance imaging (MRI) was used to investigate the structural basis of motility abnormalities in congenital fibrosis of the extraocular muscles type 3 (CFEOM3), a disorder resulting from missense mutations in TUBB3, which encodes neuron-specific β-tubulin isotype III. METH...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Association for Research in Vision and Ophthalmology, Inc.
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2941178/ https://ncbi.nlm.nih.gov/pubmed/20393110 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.10-5438 |
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