Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1
Author:
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference15 articles.
1. (1989). Tyrosinemia and related disorders. In: , , (Eds). The Metabolic Basis of Inherited Disease, New York: M. Graw-Hill, 547–562.
2. Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometry
3. Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity
4. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
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