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  • Title: Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.
    Author: Mustonen A, Ploos van Amstel HK, Berger R, Salo MK, Viinikka L, Simola KO.
    Journal: Prenat Diagn; 1997 Oct; 17(10):964-6. PubMed ID: 9358577.
    Abstract:
    Hereditary tyrosinaemia type 1 is a rare but serious metabolic disorder with an autosomal recessive mode of inheritance. We describe the prenatal diagnosis of an affected fetus performed by DNA-mutation analysis and a subsequent pregnancy with a healthy child in the same family.
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