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Article

Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's disease.

Journal of hepatology - 1 Oct 2011

Gromadzka Grażyna, Rudnicka Magdalena, Chabik Grzegorz, Przybyłkowski Adam, Członkowska Anna

Abstract excerpt

BACKGROUND & AIMS: Wilson's disease (WND) is an autosomal recessive disorder of copper (Cu) transport, resulting from pathogenic mutations in the ATP7B gene. The reason for the high variability in phenotypic expressions of WND is unknown. Hepatotoxic and neurotoxic effects of homocysteine (Hcy), as well as interrelationships between Hcy and Cu toxicity, were documented. METHODS: We genotyped the two...

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Identifiers

PMID: 21334398
DOI: 10.1016/j.jhep.2011.01.030

Genes

MTHFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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