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Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
PURPOSE: Stargardt disease (STGD), characterized by central visual impairment, is the most common juvenile macular dystrophy. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene. Early-onset autosomal recessive retinitis pigmentosa (arRP) is a severe retinal degenera...
Autores principales: | Riveiro-Alvarez, Rosa, Vallespin, Elena, Wilke, Robert, Garcia-Sandoval, Blanca, Cantalapiedra, Diego, Aguirre-Lamban, Jana, Avila-Fernandez, Almudena, Gimenez, Ascension, Trujillo-Tiebas, Maria-Jose, Ayuso, Carmen |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2258218/ https://www.ncbi.nlm.nih.gov/pubmed/18334942 |
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