rs121907983
|
|
A |
0.810 |
GeneticVariation |
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 |
rs121907983
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.
|
23759947 |
2013 |
rs121907983
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
|
22789865 |
2012 |
rs121907983
|
|
A |
0.810 |
GeneticVariation |
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 |
rs121907983
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.
|
20798201 |
2010 |
rs121907983
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Molecular and structural studies of the GM2 gangliosidosis 0 variant.
|
12166653 |
2002 |
rs121907983
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case.
|
9562328 |
1998 |
rs121907983
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
|
8950198 |
1996 |
rs121907983
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.
|
8357844 |
1993 |
rs28942073
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
|
25736553 |
2015 |
rs28942073
|
|
T |
0.800 |
CausalMutation |
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 |
rs28942073
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.
|
24263030 |
2013 |
rs28942073
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
|
22789865 |
2012 |
rs28942073
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.
|
21150067 |
2011 |
rs28942073
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
|
17237499 |
2007 |
rs28942073
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
|
7557963 |
1995 |
rs28942073
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.
|
1531140 |
1992 |
rs28942073
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
|
1386607 |
1992 |
rs121907986
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
|
29448188 |
2018 |
rs121907986
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
|
26582265 |
2016 |
rs121907986
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.
|
24613245 |
2014 |
rs121907986
|
|
T |
0.710 |
CausalMutation |
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 |
rs121907986
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
|
23046579 |
2013 |
rs121907986
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.
|
21483992 |
2011 |
rs121907986
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients.
|
19823769 |
2010 |