Functional analysis andin vitrocorrection of splicingFAHmutations causing tyrosinemia type I
Author:
Affiliation:
1. Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa; Universidad Autónoma, CIBERER, IdiPaz; Madrid Spain
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference24 articles.
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2. Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways;Dyk;Biochem Biophys Res Commun,2010
3. Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability;Jorquera;Hum Mol Genet,2001
4. Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview;St-Louis;Hum Mutat,1997
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