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A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy
PURPOSE: To identify the molecular defect in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene in a four-generation Chinese family with Schnyder corneal dystrophy (SCD). METHODS: A four-generation Chinese family with SCD and 50 unrelated normal individuals as controls were enrolled in. Th...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209473/ https://www.ncbi.nlm.nih.gov/pubmed/22065921 |