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BEST1 sequence variants in Italian patients with vitelliform macular dystrophy

PURPOSE: To analyze the spectrum of sequence variants in the BEST1 gene in a group of Italian patients affected by Best vitelliform macular dystrophy (VMD). METHODS: Thirty Italian patients with a diagnosis of VMD and 20 clinically healthy relatives were recruited. They belonged to 19 Italian famili...

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Detalles Bibliográficos
Autores principales: Sodi, Andrea, Passerini, Ilaria, Murro, Vittoria, Caputo, Roberto, Bacci, Giacomo Maria, Bodoj, Mirela, Torricelli, Francesca, Menchini, Ugo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3513188/
https://www.ncbi.nlm.nih.gov/pubmed/23213274