×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
29448188
2018
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
27021291
2016
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
27682710
2016
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
26582265
2016
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
26582265
2016
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
25736553
2015
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.
24613245
2014
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.
24356898
2014
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.
23010210
2013
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.
23127958
2013
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.
24263030
2013
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.
23759947
2013
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
23046579
2013
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
23046579
2013
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.
23010210
2013
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
22789865
2012
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.
23113155
2012
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
22848519
2012
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
22848519
2012
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.
23113155
2012
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
22789865
2012
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.
21150067
2011
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
GeneticVariation
disease
CLINVAR
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
20926324
2011
×
Entrez Id:
3074
Gene Symbol:
HEXB
HEXB
1.000
CausalMutation
disease
CLINVAR
GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.
21567908
2011