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Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients

PURPOSE: To characterize the genetic defects associated with fundus albipunctatus (FAP) in patients in Israel. METHODS: Twenty patients with FAP from diverse ethnicities underwent ophthalmic and electroretinogram tests following the International Society for Clinical Electrophysiology of Vision prot...

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Détails bibliographiques
Auteurs principaux: Pras, Eran, Pras, Elon, Reznik-Wolf, Haike, Sharon, Dror, Raivech, Svetlana, Barkana, Yaniv, Abu-Horowitz, Almogit, Ygal, Rotenstreich, Banin, Eyal
Format: Artigo
Langue:Inglês
Publié: Molecular Vision 2012
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3399783/
https://ncbi.nlm.nih.gov/pubmed/22815624
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