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    J Inherit Metab Dis. 2002 Oct;25(6):523-4.

    Mutation screening for tyrosinaemia type I.

    Heath SK, Gray RG, McKiernan P, Au KM, Walker E, Green A.

    Clinical Chemistry Department, Birmingham Children's Hospital, Birmingham, UK. stephanie.heath@bhamchildrens.wmids.nhs.uk

    Abstract

    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.

    PMID: 12555948 [PubMed - indexed for MEDLINE]

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