Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

BACKGROUND: We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy). Mutations in OPA1 encoding a mitochondrial inner membrane protein are a major cause of ADOA. METHODS: We analyz...

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Detalles Bibliográficos
Autores principales: Bolognini, Ramona, Gerth-Kahlert, Christina, Abegg, Mathias, Bartholdi, Deborah, Mathis, Nicolas, Sturm, Veit, Gallati, Sabina, Schaller, André
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331656/
https://www.ncbi.nlm.nih.gov/pubmed/28245802
http://dx.doi.org/10.1186/s12881-017-0383-x

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