×
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
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
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
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
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
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
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
GeneticVariation
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
LHGDN
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
GeneticVariation
disease
LHGDN
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
GeneticVariation
disease
UNIPROT
Screening for hereditary fructose intolerance mutations by reverse dot-blot.
10024431
1999
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
UNIPROT
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
20848650
2010
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
An informatics approach to analyzing the incidentalome.
22995991
2013
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
20848650
2010
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Screening for hereditary fructose intolerance mutations by reverse dot-blot.
10024431
1999
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
UNIPROT
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
GeneticVariation
disease
UNIPROT
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.
12205126
2002
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Hereditary fructose intolerance and celiac disease: a novel genetic association.
16630753
2006
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
LHGDN
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
12417303
2002
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
UNIPROT
A partially active mutant aldolase B from a patient with hereditary fructose intolerance.
8299883
1994
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.
8880583
1996