×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
3242
Gene Symbol:
HPD
HPD
Tyrosinemia, Type I
0.360
Biomarker
CTD_human
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosinemia, Type I
0.300
Biomarker
CTD_human
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
1401056
1992
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I ).
2378356
1990
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.
7296877
1981
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
7550234
1995
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
7550234
1995
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Two novel mutations involved in hereditary tyrosinemia type I.
7757089
1995
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1 .
7942842
1994
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1 .
7942842
1994
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I .
7977370
1994
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase .
8005583
1994
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Hereditary tyrosinemia type I is a metabolic disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH , EC 3.7.1.2), the last enzyme in the catabolic pathway of tyrosine.
8162054
1994
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.
8253378
1993
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I .
8318997
1993
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
GENOMICS_ENGLAND
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I .
8318997
1993
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I .
8318997
1993
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
We investigated the molecular basis of FAH deficiency in a hereditary tyrosinemia type 1 patient whose liver FAH showed a very low enzymatic activity.
8364576
1993
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Hereditary tyrosinemia type 1 : novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
8557261
1996
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
These results demonstrate the strong selective advantage of FAH -expressing cells in an FAH -deficient liver but also illustrate the danger of carcinomas arising from FAH -deficient hepatocytes in HT1 .
9095403
1997
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
To investigate the molecular heterogeneity of tyrosinemia, the geographic distribution and the genotype-phenotype relationship, we have analyzed the FAH genotype of 25 HT1 patients.
9633815
1998
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
11196105
2000
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 .
11209059
2001
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Thus far, 34 mutations in the FAH gene have been reported in various HT1 patients.
11278491
2001