×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
23430822 2011
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].
21117323 2010
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
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
GeneticVariation
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
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
22975760 2013
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
25256450 2015
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.
21752152 2011
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
22554029 2012
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.
22002443 2012
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
23430822 2011
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.
14691918 2003
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
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
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
25081276 2014
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
28755192 2017
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Prediction of mutant mRNA splice isoforms by information theory-based exon definition.
23348723 2013
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
26565546 2016
×
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
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
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