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Article

Mutation screening for tyrosinaemia type I.

Journal of inherited metabolic disease - 1 Oct 2002

Heath S K, Gray R G F, McKiernan P, Au K M, Walker E, Green A

Abstract excerpt

This study reports the development of a mutation screening strategy for tyrosinaemia type I, and the identification of six novel mutations in the FAA gene.

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Source

Identifiers

PMID: 12555948
DOI: 10.1023/a:1021275923668

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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