Hereditary tyrosinaemia type I in Norway: Incidence and three novel small deletions in the fumarylacetoacetase gene
Author:
Publisher
Informa UK Limited
Subject
Clinical Biochemistry,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.3109/00365513.2012.676210
Reference12 articles.
1. Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity
2. The Human Gene Mutation Database: 2008 update
3. Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin
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