rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
|
28755192 |
2017 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Type 1 Tyrosinaemia.
|
27814443 |
2016 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
|
23895425 |
2014 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
|
25081276 |
2014 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
|
23193487 |
2012 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
|
22554029 |
2012 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.
|
21752152 |
2011 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
|
23430822 |
2011 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.
|
15638932 |
2005 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.
|
11754109 |
2002 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
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 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
|
11278491 |
2001 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
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 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Fumarylacetoacetase mutations in tyrosinaemia type I.
|
8829657 |
1996 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean.
|
8821854 |
1996 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Two novel mutations involved in hereditary tyrosinemia type I.
|
7757089 |
1995 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
|
8028615 |
1994 |
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
|
8318997 |
1993 |