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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-36547097
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Curr Issues Mol Biol Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Croácia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Curr Issues Mol Biol Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Croácia