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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2018
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| Materias: | |
| 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 |