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A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy
PURPOSE: To identify the molecular defect causing Schnyder crystalline corneal dystrophy (SCCD) in a Chinese family with bilateral corneal abnormalities. METHODS: The Chinese SCCD family was subjected to a complete ophthalmic examination that included slit-lamp examination and slit-lamp photography...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Molecular Vision
2009
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2718742/ https://ncbi.nlm.nih.gov/pubmed/19649163 |
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