|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
|
1301938 |
1992 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.
|
1307230 |
1992 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
|
1322637 |
1992 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
|
1322637 |
1992 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
|
1384323 |
1992 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.
|
1483696 |
1992 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
|
1825014 |
1991 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
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 |
|
Tay-Sachs Disease
|
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 |