Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England. (Q35643404)

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24 October 2019

title

Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England (English)

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24 October 2019

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Triggs-Raine B

1

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24 October 2019

Richard M

2

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24 October 2019

Wasel N

3

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24 October 2019

Prence EM

4

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24 October 2019

Natowicz MR

5

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24 October 2019

language of work or name

English

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publication date

1 April 1995

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American Journal of Human Genetics

24 October 2019

published in

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24 October 2019

volume

56

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24 October 2019

issue

4

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24 October 2019

page(s)

870-879

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Distribution of a pseudodeficiency allele among Tay-Sachs carriers

24 October 2019

cites work

1 reference

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How sensitive is PCR-SSCP?

27 July 2018

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Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

27 July 2018

1 reference

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A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation

27 July 2018

1 reference

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The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin

27 July 2018

1 reference

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The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase

27 July 2018

1 reference

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Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians

27 July 2018

1 reference

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Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

DNA sequencing with chain-terminating inhibitors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801208

Tay-Sachs disease heterozygote detection: a quality control study

25 September 2018

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12 December 2020

Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients

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12 December 2020

Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease

1 reference

12 December 2020

Partial enzyme deficiencies: residual activities and the development of neurological disorders

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12 December 2020

Improved direct molecular diagnosis and rapid fetal sexing

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12 December 2020

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

1 reference

12 December 2020

Allele‐specific amplification of genomic DNA for detection of deletion mutations: Identification of a French‐Canadian tay‐sachs mutation

1 reference

12 December 2020

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population

1 reference

12 December 2020

Identifiers

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7717398%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

PubMed publication ID

7717398

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