×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
BEFREE
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
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
BEFREE
Tay-Sachs disease (TSD ) is an autosomal recessive genetic disorder resulting from mutation of the HEXA gene encoding the alpha-subunit of the lysosomal enzyme, beta-N-acetylhexosaminidase A (Hex A).
1301938
1992
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
CausalMutation
disease
CLINVAR
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
1301938
1992
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
GeneticVariation
disease
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
1.000
CausalMutation
disease
CLINVAR
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
1.000
CausalMutation
disease
CLINVAR
The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.
1307230
1992
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
GeneticVariation
disease
BEFREE
We have now identified two additional mutations within exon 5 of the HEXA gene that account for the remaining TSD alleles in the patient and carriers.
1322637
1992
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
CausalMutation
disease
CLINVAR
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
1322637
1992
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
GeneticVariation
disease
CLINVAR
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
1322637
1992
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
GeneticVariation
disease
BEFREE
We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele.
1384323
1992
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
CausalMutation
disease
CLINVAR
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
1384323
1992
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
CausalMutation
disease
CLINVAR
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.
1387685
1992
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
CausalMutation
disease
CLINVAR
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.
1483696
1992
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
GeneticVariation
disease
BEFREE
Mutations at the hexosaminidase A (HEXA ) gene which cause Tay-Sachs disease (TSD ) have elevated frequency in the Ashkenazi Jewish and French-Canadian populations.
1483696
1992
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
CausalMutation
disease
CLINVAR
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
1.000
GeneticVariation
disease
CLINVAR
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
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
CLINVAR
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
1827944
1991
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
CausalMutation
disease
CLINVAR
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
1827944
1991
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
GeneticVariation
disease
CLINVAR
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
1827945
1991
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
1.000
CausalMutation
disease
CLINVAR
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
1827945
1991