Chargement en cours...

Individual phenotypic variances in a family with Avellino corneal dystrophy

BACKGROUND: Avellino corneal dystrophy (ACD) is an autosomal dominant disorder, characterized by the presence of deposits in the anterior stroma, and results from a specific mutation (R124H) in the transforming growth factor beta-induced gene (TGFBI). This report presents corneal dystrophy of the Bo...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Abazi, Zihret, Magarasevic, Lidija, Grubisa, Ivana, Risovic, Dusica
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2013
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3708762/
https://ncbi.nlm.nih.gov/pubmed/23837658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2415-13-30
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!