Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms

Exonic (i.e. coding) variants in genes associated with disease can exert pathogenic effects both at the protein and mRNA level, either by altering the amino acid sequence or by affecting pre-mRNA splicing. The latter is often neglected due to the lack of RNA analyses in genetic diagnostic testing. I...

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Detalles Bibliográficos
Autores principales: Weisschuh, Nicole, Marino, Valerio, Schäferhoff, Karin, Richter, Paul, Park, Joohyun, Haack, Tobias B, Dell’Orco, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895747/
https://www.ncbi.nlm.nih.gov/pubmed/34559197
http://dx.doi.org/10.1093/hmg/ddab286

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895747/
https://www.ncbi.nlm.nih.gov/pubmed/34559197
http://dx.doi.org/10.1093/hmg/ddab286

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