title: Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene.
authors: Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios "Virgen del Rocío," Sevilla, Spain.
authors: I
authors: I
authors: Marcos
authors: A
authors: A
authors: Ruiz
authors: S
authors: S
authors: Borrego
authors: G
authors: G
authors: Antiñolo
mesh_terms: D002352:Carrier Proteins; D005136:Eye Proteins; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
chemical_list: D002352:Carrier Proteins; D005136:Eye Proteins; D011506:Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase