(Q33595444)

English

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

0 references

Tay-Sachs disease

1 reference

based on heuristic

inferred from title

author name string

Landels EC

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Green PM

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ellis IH

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Fensom AH

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Kaback MM

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Lim-Steele J

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Zeiger K

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Levy N

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Bobrow M

9

1 reference

Europe PubMed Central

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28 July 2017

language of work or name

0 references

publication date

1 June 1993

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

30

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

479-481

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016420

21 June 2018

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016420

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016420

21 June 2018

A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016420

21 June 2018

A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016420

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016420

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016420

21 June 2018

Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016420

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016420

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016420

21 June 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8326491

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A null allele frequent in non-Jewish Tay-Sachs patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8326491

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

1 reference

https://pubmed.ncbi.nlm.nih.gov/8326491

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.30.6.479

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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