×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
12417303
2002
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
Biomarker
disease
CTD_human
Doctor, my son is so tired... about a case of hereditary fructose intolerance.
18035330
2007
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Sixteen different mutations of the aldolase B (ALDOB ) gene were identified in HFI patients.
18541450
2008
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
12417303
2002
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
Biomarker
disease
CTD_human
Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.
3383242
1988
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
UNIPROT
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.
10970798
2000
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Hereditary fructose intolerance in Brazilian patients.
26937407
2015
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
23430936
2012
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
8071980
1994
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.
17955389
2007
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
LHGDN
The presented data also emphasize the usefulness of ALDOB mutation screening for diagnosis of HFI .
17457694
2007
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Mutation analysis in Turkish patients with hereditary fructose intolerance.
11757579
2001
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.
8096362
1993
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Hereditary fructose intolerance (HFI ) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB ).
15532022
2004
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
Biomarker
disease
CTD_human
Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance.
15733923
2005
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.
2336380
1990
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.
2336380
1990
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Fifteen different mutations of the aldolase B (ALDOB ) gene were identified in HFI patients.
15880727
2005
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance.
12464284
2002
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
25595217
2015
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.
20882353
2010
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
A partially active mutant aldolase B from a patient with hereditary fructose intolerance.
8299883
1994
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
8071980
1994