Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy

Purpose. To report the identification of the first de novo UBIAD1 missense mutation in an individual with Schnyder corneal dystrophy (SCD). Methods. A slit lamp examination was performed on a 47-year-old woman without a family history of corneal disorders. The proband's parents, two sisters, an...

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Detalles Bibliográficos
Autores principales: Lin, Benjamin R., Frausto, Ricardo F., Vo, Rosalind C., Chiu, Stephan Y., Chen, Judy L., Aldave, Anthony J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921136/
https://www.ncbi.nlm.nih.gov/pubmed/27382485
http://dx.doi.org/10.1155/2016/1968493

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921136/
https://www.ncbi.nlm.nih.gov/pubmed/27382485
http://dx.doi.org/10.1155/2016/1968493

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