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