Associated Papers
The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).
Chi H et al.
Molecular Genetics & Genomic Medicine, 2023
36369907 (PubMed )
Supplement: MGG3-11-e2090-s001.xlsx › Sheet1
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity.
Kawabata K et al.
Molecular Genetics and Metabolism Reports, 2022
35800472 (PubMed )
Supplement: mmc4.docx
Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.
Gil-Martínez J et al.
International Journal of Molecular Sciences, 2021
Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate.
Macias I et al.
The Journal of Biological Chemistry, 2019
Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Morrow G et al.
Advances in Experimental Medicine and Biology, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
Angileri F et al.
Jimd Reports, 2015
Mechanistic inferences from the crystal structure of fumarylacetoacetate hydrolase with a bound phosphorus-based inhibitor.
Bateman RL et al.
The Journal of Biological Chemistry, 2001
Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
Bergeron A et al.
The Journal of Biological Chemistry, 2001
Crystal structure and mechanism of a carbon-carbon bond hydrolase.
Timm DE et al.
Structure (london, England : 1993), 1999
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
Bergman AJ et al.
Human Mutation, 1998
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
St-Louis M et al.
Human Mutation, 1997
Fumarylacetoacetase mutations in tyrosinaemia type I.
Rootwelt H et al.
Human Mutation, 1996
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
Hahn SH et al.
Human Mutation, 1995
Select a paper to view details