Caricamento...
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...
Salvato in:
| Pubblicato in: | J Ophthalmol |
|---|---|
| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Hindawi Publishing Corporation
2016
|
| Soggetti: | |
| Accesso online: | 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 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|