Navegando por Palavras-chave "retinal dystrophies"

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    PROM1 gene variations in Brazilian patients with macular dystrophy
    (Taylor & Francis Inc, 2017) Salles, Mariana Vallim [UNIFESP]; Motta, Fabiana Louise Teixeira [UNIFESP]; Silva, Elton Dias da [UNIFESP]; Teixeira, Patricia Varela Lima [UNIFESP]; Costa, Karita Antunes [UNIFESP]; Silva, Rafael Filippelli da [UNIFESP]; Martin, Renan Paulo [UNIFESP]; Pesquero, João Bosco [UNIFESP]; Sallum, Juliana Maria Ferraz [UNIFESP]
    Background: Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. Purpose: The aim of this study was to evaluate PROM1 gene sequence variations in patients with macular dystrophy. Material and methods: This retrospective study evaluated variations in the PROM1 gene detected by next-generation sequencing test in patients with macular dystrophy and Stargardt disease. Results: Of 25 medical records of patients with Stargardt disease, three records of patients with PROM1 gene sequence variations were selected for the study. The p. Asp776Val and p. Asp829Asn variants were detected in cases 1 and 2, respectively, and predicted to be pathogenic