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An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI
PURPOSE: To characterize the molecular defects in the TGFBI gene in a Chinese family with an unusual phenotype of Reis-Bücklers corneal dystrophy (RBCD). METHODS: Three generations of the family with RBCD were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chai...
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| Hoofdauteurs: | , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Molecular Vision
2008
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2467519/ https://ncbi.nlm.nih.gov/pubmed/18636123 |
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