×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
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
UNIPROT
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
2522679 1989
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).
2144098 1990
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
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
UNIPROT
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
1837283 1991
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
1302612 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
1301189 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
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
UNIPROT
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
1532289 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
8445615 1993
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
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
Biomarker
GENOMICS_ENGLAND
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
UNIPROT
Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
7951261 1994
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
Molecular genetics of Tay-Sachs disease in Japan.
7837766 1994
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
8581357 1995
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.
7898712 1995
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
Tay-Sachs disease (TSD ) results from mutations in HEXA that cause Hex A deficiency.7717398 1995
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.
8757036 1996
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
9150157 1997
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
Previous studies among Moroccan Jewish TSD families identified three HEXA mutations.
9338583 1997
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease .
9401008 1997
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.
9375850 1997
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
Mutations in the HEXA gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), that abolish Hex A enzyme activity cause Tay-Sachs disease (TSD ), the fatal infantile form of G(M2) gangliosidosis, Type 1.
9603435 1998
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
Biomarker
CTD_human
31Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease.
11392526 2001
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
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