×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
1825014 1991
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.
14566483 2003
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
7551830 1995
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
8490625 1993
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
18490185 2008
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD ) in three unrelated nonconsanguineous Chinese families.
1301190 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Biochemical consequences of mutations causing the GM2 gangliosidoses.
10571007 1999
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
8328462 1993
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Eight novel mutations in the HEXA gene.
12180151 2003
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
22789865 2012
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.
2970528 1988
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Molecular genetics of Tay-Sachs disease in Japan.
7837766 1994
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
10083731 1999
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease.
6959123 1982
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
1322637 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Late-onset Tay-Sachs disease presenting as a childhood stutter.
19091716 2009
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.
20363167 2010
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation.
11161796 2001
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.
2140574 1990
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
8730294 1996
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Rapid identification of HEXA mutations in Tay-Sachs patients.
20100466 2010
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
23035047 2012
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Three novel mutations in Iranian patients with Tay-Sachs disease.
24518553 2014
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
15714079 2005
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
17237499 2007