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The First Homozygote Mutation c.499G>T (Asp167Tyr) in the RPE65 Gene Encoding Retinoid Isomerohydrolase Causing Retinal Dystrophy
Bjelos, Mirjana; Curic, Ana; Rak, Benedict; Busic, Mladen; Kuzmanovic Elabjer, Biljana.
Afiliación
  • Bjelos M; University Eye Department, Reference Center of the Ministry of Health of the Republic of Croatia for Inherited Retinal Dystrophies, Reference Center of the Ministry of Health of the Republic of Croatia for Pediatric Ophthalmology and Strabismus, University Hospital "Sveti Duh", 10000 Zagreb, Croatia
  • Curic A; Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia.
  • Rak B; Faculty of Dental Medicine and Health Osijek, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia.
  • Busic M; University Eye Department, Reference Center of the Ministry of Health of the Republic of Croatia for Inherited Retinal Dystrophies, Reference Center of the Ministry of Health of the Republic of Croatia for Pediatric Ophthalmology and Strabismus, University Hospital "Sveti Duh", 10000 Zagreb, Croatia
  • Kuzmanovic Elabjer B; Faculty of Dental Medicine and Health Osijek, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia.
Curr Issues Mol Biol ; 44(12): 6397-6403, 2022 Dec 16.
Article en En | MEDLINE | ID: mdl-36547097

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Curr Issues Mol Biol Asunto de la revista: BIOLOGIA MOLECULAR Año: 2022 Tipo del documento: Article País de afiliación: Croacia Pais de publicación: Suiza

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Curr Issues Mol Biol Asunto de la revista: BIOLOGIA MOLECULAR Año: 2022 Tipo del documento: Article País de afiliación: Croacia Pais de publicación: Suiza