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Clinical evaluation of two consanguineous families with homozygous mutations in BEST1

PURPOSE: To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene. METHODS: Ophthalmologic examination was performed in eight members of two families originating from Spain an...

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Detalles Bibliográficos
Autores principales:	Piñeiro-Gallego, Teresa, Álvarez, María, Pereiro, Inés, Campos, Severiano, Sharon, Dror, Schatz, Patrik, Valverde, Diana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123162/ https://www.ncbi.nlm.nih.gov/pubmed/21738390

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