×
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
GeneticVariation
BEFREE
The disease is caused by mutations in the FAH gene that results in deficiency of fumarylacetoacetase , an enzyme that is involved in the tyrosine degradation pathway.
24756054
2014
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
BEFREE
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
Biomarker
CTD_human
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
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
BEFREE
Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong.
23000314
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
Biomarker
CLINGEN
We investigated a Chinese family with a HT1 child to identify mutations in FAH .
22884142
2012
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
BEFREE
We investigated a Chinese family with a HT1 child to identify mutations in FAH .
22884142
2012
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
BEFREE
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