Phenotypic characteristics associated with mutations in the tran- sforming 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.
Lattice Corneal Dystrophy: a report of two cases in twin si- sters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene / Costagliola, C.; Romano, V.; Cifariello, F.; Aceto, F.; Porcellini, Antonio. - In: LA CLINICA TERAPEUTICA. - ISSN 1972-6007. - 165:1(2014), pp. 73-75. [10.7471/CT.2014.1676]
Lattice Corneal Dystrophy: a report of two cases in twin si- sters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene
C. Costagliola
;PORCELLINI, ANTONIOProject Administration
2014
Abstract
Phenotypic characteristics associated with mutations in the tran- sforming 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.| File | Dimensione | Formato | |
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