Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients

PURPOSE. The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations. METHODS. DNA samples from 45 patients with ocular...

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Библиографические подробности
Главные авторы: Gargiulo, Annagiusi, Testa, Francesco, Rossi, Settimio, Di Iorio, Valentina, Fecarotta, Simona, de Berardinis, Teresa, Iovine, Antonello, Magli, Adriano, Signorini, Sabrina, Fazzi, Elisa, Galantuomo, Maria Silvana, Fossarello, Maurizio, Montefusco, Sandro, Ciccodicola, Alfredo, Neri, Alberto, Macaluso, Claudio, Simonelli, Francesca, Surace, Enrico Maria
Формат: Artigo
Язык:Inglês
Опубликовано: Association for Research in Vision and Ophthalmology, Inc. 2011
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Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3101674/
https://ncbi.nlm.nih.gov/pubmed/20861488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.10-6091
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