|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
|
25256450 |
2015 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
|
25681080 |
2015 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
|
25081276 |
2014 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The fate of tyrosinaemic Hungarian patients before the NTBC aera.
|
24555242 |
2013 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prediction of mutant mRNA splice isoforms by information theory-based exon definition.
|
23348723 |
2013 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.
|
21752152 |
2011 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
|
23430822 |
2011 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
|
23430836 |
2011 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.
|
12203990 |
2002 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
|
11476670 |
2001 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
|
9633815 |
1998 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
|
9101289 |
1997 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Fumarylacetoacetase mutations in tyrosinaemia type I.
|
8829657 |
1996 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.
|
8723690 |
1996 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
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 |