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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Detalhes bibliográficos
Publicado no:J Ophthalmol
Main Authors: Lin, Benjamin R., Frausto, Ricardo F., Vo, Rosalind C., Chiu, Stephan Y., Chen, Judy L., Aldave, Anthony J.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2016
Assuntos:
Research Article
Acesso em linha: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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