Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients

PURPOSE: To report on the phenotype and the genotype of Italian patients carrying BEST1 mutations on both alleles. METHODS: Five Italian patients from four independent pedigrees with retinal dystrophy associated with biallelic BEST1 variants were recruited from different parts of Italy. Molecular ge...

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Detalles Bibliográficos
Autores principales: Sodi, Andrea, Menchini, Francesca, Manitto, Maria Pia, Passerini, Ilaria, Murro, Vittoria, Torricelli, Francesca, Menchini, Ugo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3233384/
https://www.ncbi.nlm.nih.gov/pubmed/22162627

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