The Deep Intronic c.903+469T>C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cblE Type of Homocystinuria

Deep intronic mutations are often ignored as possible causes of human diseases. A deep intronic mutation in the MTRR gene, c.903+469T>C, is the most frequent mutation causing the cblE type of homocystinuria. It is well known to be associated with pre-mRNA missplicing, resulting in pseudoexon incl...

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Detalles Bibliográficos
Autores principales: Homolova, Katerina, Zavadakova, Petra, Doktor, Thomas Koed, Schroeder, Lisbeth Dahl, Kozich, Viktor, Andresen, Brage S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429857/
https://www.ncbi.nlm.nih.gov/pubmed/20120036
http://dx.doi.org/10.1002/humu.21206

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429857/
https://www.ncbi.nlm.nih.gov/pubmed/20120036
http://dx.doi.org/10.1002/humu.21206

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