Article
Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.
Prenatal diagnosis - 1 Oct 1997
Mustonen A, Ploos van Amstel H K, Berger R, Salo M K, Viinikka L, Simola K O
Abstract excerpt
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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