rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
20003495
2009
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
11476670
2001
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
11278491
2001
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
11196105
2000
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
T
0.800
CausalMutation
CLINVAR
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
9633815
1998
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
9633815
1998
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
T
0.800
CausalMutation
CLINVAR
Fumarylacetoacetase mutations in tyrosinaemia type I.
8829657
1996
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
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
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
8364576
1993
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
8318997
1993
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
T
0.800
CausalMutation
CLINVAR
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
8005583
1994
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
8005583
1994
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
7977370
1994
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
7942842
1994
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
Two novel mutations involved in hereditary tyrosinemia type I.
7757089
1995
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
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
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
1401056
1992