Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy.

Grubisa, Ivana; Jankovic, Milena; Nikolic, Nadja; Jaksic, Vesna; Risimic, Dijana; Mavija, Milka; Stamenkovic, Miroslav; Zlatovic, Mario; Milasin, Jelena

Grubisa, Ivana; Jankovic, Milena; Nikolic, Nadja; Jaksic, Vesna; Risimic, Dijana; Mavija, Milka; Stamenkovic, Miroslav; Zlatovic, Mario; Milasin, Jelena.

Afiliação

Grubisa I; Department of Human Genetics, Zvezdara University Medical Center, University of Belgrade, Dimitrija Tucovica 161, 11000, Belgrade, Serbia. Electronic address: ivana.grubisa@kbczvezdara.rs.
Jankovic M; Neurology Clinic, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Dr Subotica Starijeg 6, 11000, Belgrade, Serbia. Electronic address: milena.jankovic.82@gmail.com.
Nikolic N; Department of Biology and Human Genetics, School of Dental Medicine, University of Belgrade, Dr Subotica 1, 11000, Belgrade, Serbia. Electronic address: nadja.nikolic@stomf.bg.ac.rs.
Jaksic V; Faculty of Medicine, University of Belgrade, Dr Subotica 8, 11000, Belgrade, Serbia; University Eye Clinic Zvezdara, University of Belgrade, Dismitrija Tucovica 161, 11000, Belgrade, Serbia. Electronic address: vvjaksic@yahoo.com.
Risimic D; Faculty of Medicine, University of Belgrade, Dr Subotica 8, 11000, Belgrade, Serbia. Electronic address: dijana.risimic@med.bg.ac.rs.
Mavija M; Faculty of Medicine, University of Banja Luka, Save Mrkalja 14, 78000, Banja Luka, Bosnia and Herzegovina. Electronic address: milkamavija@yahoo.com.
Stamenkovic M; University Eye Clinic Zvezdara, University of Belgrade, Dismitrija Tucovica 161, 11000, Belgrade, Serbia. Electronic address: drmiroslavstamenkovic@gmail.com.
Zlatovic M; Faculty of Chemistry, University of Belgrade, Studentski Trg 12-16, 11000, Belgrade, Serbia. Electronic address: mario@chem.bg.ac.rs.
Milasin J; Department of Biology and Human Genetics, School of Dental Medicine, University of Belgrade, Dr Subotica 1, 11000, Belgrade, Serbia. Electronic address: jelena.milasin@stomf.bg.ac.rs.

Exp Eye Res ; 207: 108575, 2021 06.

Article em En | MEDLINE | ID: mdl-33864784

Assuntos

Distrofias Hereditárias da Córnea/genética; Proteínas de Ligação a DNA/genética; Mutação de Sentido Incorreto; Proteínas Nucleares/genética; Degeneração Retiniana/genética; Fatores de Transcrição/genética; População Branca/genética; Adolescente; Feminino; Humanos; Masculino; Pessoa de Meia-Idade; Linhagem; Reação em Cadeia da Polimerase; Sérvia/epidemiologia; Fatores de Transcrição de Domínio TEA; Adulto Jovem

Palavras-chave

Helicoidal peripapillary chorioretinal degeneration; Sveinsson's chorioretinal atrophy; TEAD1, novel variant

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Fatores de Transcrição / Proteínas Nucleares / Distrofias Hereditárias da Córnea / Mutação de Sentido Incorreto / População Branca / Proteínas de Ligação a DNA Limite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Exp Eye Res Ano de publicação: 2021 Tipo de documento: Article

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