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Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1

✍ Scribed by Aki Mustonen; Hans Kristian Ploos Van Amstel; Ruud Berger; Matti K. Salo; Lasse Viinikka; Kalle O. J. Simola

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
26 KB
Volume
17
Category
Article
ISSN
0197-3851

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✦ Synopsis

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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