rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
CausalMutation
CLINVAR
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
23430936
2012
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
GeneticVariation
CLINVAR
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
23430936
2012
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
0.800
GeneticVariation
UNIPROT
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
20848650
2010
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
CausalMutation
CLINVAR
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
20033295
2010
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
CausalMutation
CLINVAR
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.
20882353
2010
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
GeneticVariation
CLINVAR
Subsequently, an aversion to fruits suggested HFI , confirmed by the finding of ALDOB mutations (p.A150P/p.N335K ).
19768653
2009
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
GeneticVariation
CLINVAR
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.
18541450
2008
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
CausalMutation
CLINVAR
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.
18541450
2008
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
CausalMutation
CLINVAR
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
15880727
2005
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
0.800
GeneticVariation
UNIPROT
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
15880727
2005
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
GeneticVariation
CLINVAR
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
15880727
2005
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
0.800
GeneticVariation
UNIPROT
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.
15532022
2004
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
CausalMutation
CLINVAR
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.
12205126
2002
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
CausalMutation
CLINVAR
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
12417303
2002
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
GeneticVariation
CLINVAR
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.
12205126
2002
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
0.800
GeneticVariation
UNIPROT
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.
12205126
2002
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
GeneticVariation
CLINVAR
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
12417303
2002
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
CausalMutation
CLINVAR
Mutation analysis in Turkish patients with hereditary fructose intolerance.
11757579
2001
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
0.800
GeneticVariation
UNIPROT
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.
10970798
2000
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
0.800
GeneticVariation
UNIPROT
Screening for hereditary fructose intolerance mutations by reverse dot-blot.
10024431
1999
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
0.800
GeneticVariation
UNIPROT
Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.
8162030
1994
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
0.800
GeneticVariation
UNIPROT
A partially active mutant aldolase B from a patient with hereditary fructose intolerance.
8299883
1994
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
GeneticVariation
CLINVAR
Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
1856829
1991
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
0.800
GeneticVariation
UNIPROT
Molecular analysis of aldolase B genes in hereditary fructose intolerance.
1967768
1990
rs78340951
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
Hereditary fructose intolerance syndrome
C
0.800
CausalMutation
CLINVAR
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.
2336380
1990