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A novel PIKFYVE mutation in fleck corneal dystrophy

PURPOSE: To report the findings of the clinical and molecular evaluation in a Greek family with fleck corneal dystrophy (CFD). METHODS: A 58-year-old woman was seen on routine ophthalmic examination and diagnosed as having CFD. All available family members were examined to evaluate the clinical find...

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Detalhes bibliográficos
Main Authors: Kotoulas, Andreas, Kokotas, Haris, Kopsidas, Konstantinos, Droutsas, Konstantinos, Grigoriadou, Maria, Bajrami, Hasret, Schorderet, Daniel F., Petersen, Michael B.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3209427/
https://ncbi.nlm.nih.gov/pubmed/22065932
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