|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
|
25081276 |
2014 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
|
24756054 |
2014 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
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 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
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 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
|
24016420 |
2013 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prediction of mutant mRNA splice isoforms by information theory-based exon definition.
|
23348723 |
2013 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
[Mutation analysis of FAH gene in patients with tyrosinemia type 1].
|
23927806 |
2013 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The fate of tyrosinaemic Hungarian patients before the NTBC aera.
|
24555242 |
2013 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
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 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
|
22554029 |
2012 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.
|
22002443 |
2012 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].
|
23225041 |
2012 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
|
22554029 |
2012 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We investigated a Chinese family with a HT1 child to identify mutations in FAH.
|
22884142 |
2012 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated a Chinese family with a HT1 child to identify mutations in FAH.
|
22884142 |
2012 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
|
22554029 |
2012 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
|
23193487 |
2012 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.
|
21752152 |
2011 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
|
23430822 |
2011 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
|
21764616 |
2011 |