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...

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Detalles Bibliográficos
Autores principales: Du, Chunyu, Li, Ying, Dai, Lili, Gong, Lingmin, Han, Chengcheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209473/
https://www.ncbi.nlm.nih.gov/pubmed/22065921

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