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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:J Ophthalmol
Main Authors: Lin, Benjamin R., Frausto, Ricardo F., Vo, Rosalind C., Chiu, Stephan Y., Chen, Judy L., Aldave, Anthony J.
Format: Artigo
Jezik:Inglês
Izdano: Hindawi Publishing Corporation 2016
Teme:
Research Article
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki