טוען...
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...
שמור ב:
| הוצא לאור ב: | J Hum Genet |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2018
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5919117/ https://ncbi.nlm.nih.gov/pubmed/29497141 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-018-0427-x |
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