Mutation analysis for prenatal diagnosis
✍
Aki Mustonen; Hans Kristian Ploos Van Amstel; Ruud Berger; Matti K. Salo; Lasse
📂
Article
📅
1997
🏛
John Wiley and Sons
🌐
English
⚖ 26 KB
👁 2 views
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.