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Browsing by Author "Calado, Sofía M."
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Article
Generation of a human iPS cell line (CABi003-A) from a patient with age-related macular degeneration carrying the CFH Y402H polymorphism
García Delgado, Ana Belén; Calado, Sofía M.; Valdés Sánchez, Lourdes; Montero Sánchez, Adoración; Ponte-Zuñiga, Beatriz; De la Cerda, Berta; Bhattacharya, Shom Shanker; Díaz Corrales, Francisco Javier (Elsevier, 2019)Age-related macular degeneration (AMD) is the leading cause of adult blindness in developed countries and is characterized ...
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Article
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
Calado, Sofía M.; García Delgado, Ana Belén; Cerda, Berta De la; Ponte-Zuñiga, Beatriz; Bhattacharya, Shomi S.; Díaz Corrales, Francisco Javier (Elsevier, 2018-11-16)Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal ...
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Article
Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins
Valdés Sánchez, Lourdes; Calado, Sofía M.; Cerda, Berta De la; Aramburu, Ana; García Delgado, Ana Belén; Massalini, Simone; Montero Sánchez, Adoración; Bhatia, Vaibhav; Rodríguez Bocanegra, Eduardo; Diez Lloret, Andrea; Rodríguez Martínez, Daniel; Chakarova, Christina; Bhattacharya, Shomi S.; Díaz Corrales, Francisco Javier (BMC (part of Springer Nature), 2020)Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism ...