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4. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902 [TBL] [Abstract][Full Text] [Related]
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14. Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies. Gonzàlez-Duarte R; de Castro-Miró M; Tuson M; Ramírez-Castañeda V; Gils RV; Marfany G Adv Exp Med Biol; 2019; 1185():215-219. PubMed ID: 31884614 [TBL] [Abstract][Full Text] [Related]
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16. Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients. Fernandez-San Jose P; Corton M; Blanco-Kelly F; Avila-Fernandez A; Lopez-Martinez MA; Sanchez-Navarro I; Sanchez-Alcudia R; Perez-Carro R; Zurita O; Sanchez-Bolivar N; Lopez-Molina MI; Garcia-Sandoval B; Riveiro-Alvarez R; Ayuso C Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2173-82. PubMed ID: 25698705 [TBL] [Abstract][Full Text] [Related]
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