Phenotypic characteristics associated with mutations in the transforming growth factor beta-induced (TGFBI) gene in two twin sisters suffering from lattice corneal dystrophy are reported. Genomic DNA was extracted from peripheral blood and 3 new mutations in association with exons 11-12-14 of the TGFBI gene were found. © Società Editrice Universo (SEU).
Lattice Corneal Dystrophy: A report of two cases in twin sisters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene
Romano Vito
2014-01-01
Abstract
Phenotypic characteristics associated with mutations in the transforming growth factor beta-induced (TGFBI) gene in two twin sisters suffering from lattice corneal dystrophy are reported. Genomic DNA was extracted from peripheral blood and 3 new mutations in association with exons 11-12-14 of the TGFBI gene were found. © Società Editrice Universo (SEU).File in questo prodotto:
| File | Dimensione | Formato | |
|---|---|---|---|
|
Lattice Corneal Dystrophy (Clin Ter).pdf
solo utenti autorizzati
Licenza:
DRM non definito
Dimensione
614.15 kB
Formato
Adobe PDF
|
614.15 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
