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Article

The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.

Journal of human genetics - 1 May 2018

Scalet Daniela, Sacchetto Claudia, Bernardi Francesco, Pinotti Mirko, van de Graaf Stan F J, Balestra Dario

Abstract excerpt

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 the frequent FAH c.1062+5G>A mutation, a second somatic change (c.1061C>A) has been reported in the same allele, and...

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Identifiers

PMID: 29497141
DOI: 10.1038/s10038-018-0427-x
PMCID: PMC5919117

Genes

FAH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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