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Article

Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.

Journal of molecular medicine (Berlin, Germany) - 1 May 2005

Bliksrud Y T, Brodtkorb E, Andresen P A, van den Berg I E T, Kvittingen E A

Abstract excerpt

Many patients with tyrosinaemia type 1 have a mosaic pattern of fumarylacetoacetase (FAH) immunopositive or immunonegative nodules in liver tissue. This phenomenon has been explained by a spontaneous reversion of the mutation in one allele to a normal genotype, but only a few nodules have been examined. We now report on a Norwegian patient, compound heterozygous for the mutations IVS12g(+5)-->a and G(1009-->)A,...

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Source

Identifiers

PMID: 15759101
DOI: 10.1007/s00109-005-0648-2

Genes

FAH

Provenance

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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