×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
BEFREE
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
CausalMutation
CLINVAR
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
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
GeneticVariation
BEFREE
Recently, we identified a splice mutation and two nonsense mutations in the fumarylacetoacetate hydrolase gene in two patients from Quebec with tyrosinemia type I .
8028615 1994
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
8028615 1994
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
8028615 1994
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
BEFREE
Tyrosinemia type 1 --complex splicing defects and a missense mutation in the fumarylacetoacetase gene.8076937 1994
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
8076937 1994
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
8076937 1994
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
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
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
BEFREE
The finding that the Fah gene in wild-type mice is highly expressed only in cell types that develop a phenotype in mutants, and the fact that Fah deficiency determines the human liver disease hereditary tyrosinemia type 1 (HT1), suggested that disruption of the Fah gene was responsible for the lethal albino phenotype.
8253377 1993
×
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
BEFREE
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
CLINVAR
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
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
CausalMutation
CLINVAR
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
Biomarker
BEFREE
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
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
CLINVAR
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
Biomarker
BEFREE
Hereditary tyrosinemia type I . Self-induced correction of the fumarylacetoacetase defect.8473520 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
CausalMutation
CLINVAR
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