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Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.
Weisschuh, Nicole; Marino, Valerio; Schäferhoff, Karin; Richter, Paul; Park, Joohyun; Haack, Tobias B; Dell'Orco, Daniele.
Afiliação
  • Weisschuh N; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen 72076, Germany.
  • Marino V; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Verona 37134, Italy.
  • Schäferhoff K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.
  • Richter P; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen 72076, Germany.
  • Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.
  • Dell'Orco D; Centre for Rare Diseases, University of Tübingen, Tübingen 72076, Germany.
Hum Mol Genet ; 31(5): 761-774, 2022 03 03.
Article em En | MEDLINE | ID: mdl-34559197
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica Autossômica Dominante Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica Autossômica Dominante Idioma: En Ano de publicação: 2022 Tipo de documento: Article