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A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.
Zampatti, Stefania; Peconi, Cristina; Calvino, Giulia; Ferese, Rosangela; Gambardella, Stefano; Cascella, Raffaella; Sebastiani, Jacopo; Falsini, Benedetto; Cusumano, Andrea; Giardina, Emiliano.
Afiliação
  • Zampatti S; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
  • Peconi C; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
  • Calvino G; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
  • Ferese R; Neuromed IRCSS, 86077 Pozzilli, Italy.
  • Gambardella S; Neuromed IRCSS, 86077 Pozzilli, Italy.
  • Cascella R; Department of Biomolecular Sciences, University of Urbino "Carlo Bo", 61029 Urbino, Italy.
  • Sebastiani J; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
  • Falsini B; Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, 1000 Tirana, Albania.
  • Cusumano A; Macula & Genoma Foundation, 00133 Rome, Italy.
  • Giardina E; Macula & Genoma Foundation, 00133 Rome, Italy.
Genes (Basel) ; 14(8)2023 08 21.
Article em En | MEDLINE | ID: mdl-37628710

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Algoritmos / Splicing de RNA Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Algoritmos / Splicing de RNA Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália