The Somatic FAH c.1061C>A Change Counteracts the Frequent FAH c.1062+5G>A Mutation and Permits U1snRNA-Based Splicing Correction

In tyrosinaemia type 1(HT1), a mosaic pattern of fumarylacetoacetase (FAH) immunopositive or immunonegative nodules in liver tissue has been reported in many patients. This aspect is generally explained by a spontaneous reversion of the mutation into a normal genotype. In one HT1 patient carrying th...

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Detalles Bibliográficos
Autores principales: Scalet, Daniela, Sacchetto, Claudia, Bernardi, Francesco, Pinotti, Mirko, van de Graaf, Stan F.J., Balestra, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5919117/
https://www.ncbi.nlm.nih.gov/pubmed/29497141
http://dx.doi.org/10.1038/s10038-018-0427-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5919117/
https://www.ncbi.nlm.nih.gov/pubmed/29497141
http://dx.doi.org/10.1038/s10038-018-0427-x

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