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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Detalles Bibliográficos
Autores principales: Jing, Yang, Liu, Chun, Xu, Junmin, Wang, Liya
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718742/
https://www.ncbi.nlm.nih.gov/pubmed/19649163

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