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Article

Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study.

European journal of medical genetics - 1 Oct 2024

Beyzaei Zahra, Goudarzi Zahra, Dehghani Seyed Mohsen, Moravej Hossein, Imanieh Mohammad Hadi, Ataollahi Maryam, Heidari Mozhdeh, Geramizadeh Bita

Abstract excerpt

Hereditary Tyrosinemia Type 1 (HT1) is a genetic disorder characterized by an autosomal recessive inheritance pattern, caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene, which results in a deficiency of fumarylacetoacetase. In our study, we identified a total of 15 mutations, including 12 newly discovered and 3 previously reported pathogenic mutations, in a cohort of 19 Iranian patients with the...

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Identifiers

PMID: 39260601
DOI: 10.1016/j.ejmg.2024.104970

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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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