Mutation screening for tyrosinaemia type I.

SK Heath, Richard Gray, Patrick McKiernan, KM Au, Elizabeth Walker, Anne Green

Research output: Contribution to journalArticle

19 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)523-4
Number of pages2
JournalJournal of Inherited Metabolic Disease
Issue number6
Publication statusPublished - 1 Oct 2002


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