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Novel Variant IMPDH1 c.134A>G, p.(Tyr45Cys): Phenotype-Genotype Correlation Revealed Likely Benign Clinical Significance.
Bjelos, Mirjana; Curic, Ana; Busic, Mladen; Rak, Benedict; Kuzmanovic Elabjer, Biljana; Markovic, Leon.
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  • 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.
  • Busic M; Faculty of Dental Medicine and Health Osijek, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia.
  • Rak B; 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.
  • Markovic L; 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
Int J Mol Sci ; 24(15)2023 Jul 25.
Article en En | MEDLINE | ID: mdl-37569264
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Relevancia Clínica Tipo de estudio: Guideline Límite: Adolescent / Female / Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Croacia Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Relevancia Clínica Tipo de estudio: Guideline Límite: Adolescent / Female / Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Croacia Pais de publicación: Suiza