×
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
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
Type 1 Tyrosinaemia.
27814443 2016
×
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
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
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
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
25087612 2014
×
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
GeneticVariation
CLINVAR
We have characterized using minigenes four splicing mutations affecting exonic or intronic nucleotides of the FAH gene identified in two HT1 patients.
23895425 2014
×
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
CausalMutation
CLINVAR
We have characterized using minigenes four splicing mutations affecting exonic or intronic nucleotides of the FAH gene identified in two HT1 patients.
23895425 2014
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
CLINVAR
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
24016420 2013
×
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
GeneticVariation
CLINVAR
[Mutation analysis of FAH gene in patients with tyrosinemia type 1].
23927806 2013
×
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
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
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
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
GeneticVariation
CLINVAR
[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].
23225041 2012
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
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
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
23193487 2012
×
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
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
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
21764616 2011