Lattice Corneal Dystrophy: a report of two cases in twin sisters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene.

Costagliola, C; Romano, V; Cifariello, F; Aceto, F; Porcellini, A

Costagliola, C; Romano, V; Cifariello, F; Aceto, F; Porcellini, A.

Afiliação

Costagliola C; Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy U.O.
Romano V; Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy; St Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom.
Cifariello F; Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy U.O.
Aceto F; Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy U.O.
Porcellini A; Department of Structural and Functional Biology, University of Naples, Federico II, Naples, Italy.

Clin Ter ; 165(1): e73-5, 2014.

Article em En | MEDLINE | ID: mdl-24589966

ABSTRACT

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.

Assuntos

Distrofias Hereditárias da Córnea/genética; Proteínas da Matriz Extracelular/genética; Fator de Crescimento Transformador beta/genética; Éxons; Feminino; Humanos; Pessoa de Meia-Idade; Mutação; Irmãos

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Hereditárias da Córnea / Proteínas da Matriz Extracelular / Fator de Crescimento Transformador beta Limite: Female / Humans / Middle aged Idioma: En Revista: Clin Ter Ano de publicação: 2014 Tipo de documento: Article

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