- Tytuł:
-
Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and
Bowman Layer Opacities. - Autorzy:
- Źródło:
- Ophthalmic genetics [Ophthalmic Genet] 2020 Dec; Vol. 41 (6), pp. 639-644. Date of Electronic Publication: 2020 Sep 03.
- Typ publikacji:
- Case Reports; Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Mutation*
Phenotype*Bowman Membrane /*pathology
Corneal Dystrophies, Hereditary/*pathology
Epithelium, Corneal/*pathology
Extracellular Matrix Proteins/*genetics
Transforming Growth Factor beta/*genetics
Age of Onset ; Autoantigens/genetics ;Bowman Membrane /metabolism ; Corneal Dystrophies, Hereditary/genetics ; Epithelium, Corneal/metabolism ; Female ; Humans ; Male ; Middle Aged ; Non-Fibrillar Collagens/genetics ; Pedigree ; Recurrence ; Slit Lamp Microscopy ; Collagen Type XVII
Czasopismo naukowe