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A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family
AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome (MFS) phenotype and an unusual bilateral macular degeneration. METHODS: Ophthalmic, cardiovascular and systemic examinations were performed, and genomic DNA extracted from all living family me...
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| Publicat a: | Int J Ophthalmol |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
International Journal of Ophthalmology Press
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6520272/ https://ncbi.nlm.nih.gov/pubmed/31131229 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2019.05.05 |
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