×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias.
15187789 2004
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
25681080 2015
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
The fate of tyrosinaemic Hungarian patients before the NTBC aera.
24555242 2013
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
23430836 2011
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
24756054 2014
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
Crystal structure and mechanism of a carbon-carbon bond hydrolase.
10508789 1999
×
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
CausalMutation
CLINVAR
Self-induced correction of the genetic defect in tyrosinemia type I.
7929843 1994
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
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
CausalMutation
CLINVAR
Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase.
15465000 2004
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1.
22802474 2010
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
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
CLINVAR
Two novel mutations involved in hereditary tyrosinemia type I.
7757089 1995
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Tyrosinemia type I , the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH ).11476670 2001
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Fumarylacetoacetase mutations in tyrosinaemia type I.
8829657 1996
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.
11754109 2002
×
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
CausalMutation
CLINVAR
Thus far, 34 mutations in the FAH gene have been reported in various HT1 patients.
11278491 2001
×
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
GeneticVariation
CLINVAR
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
9101289 1997
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
Fumarylacetoacetase mutations in tyrosinaemia type I.
8829657 1996
×
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
CausalMutation
CLINVAR
A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.
15638932 2005
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
9101289 1997
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
Gene symbol: FAH. Disease: tyrosinaemia 1.
16521249 2005