(Q67906320)

English

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

scientific article published on 01 January 1991

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838124%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

Allele-specific amplification of genomic DNA for detection of deletion mutations: identification of a French-Canadian Tay-Sachs mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838124%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

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

1 reference

10.1007/BF01799939

https://api.crossref.org/works/10.1007/BF01799939

6 December 2022

chromosomal deletion syndrome

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1838124

6 December 2022

1 reference

10.1007/BF01799939

https://api.crossref.org/works/10.1007/BF01799939

6 December 2022

author name string

F. Kaplan

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1838124

6 December 2022

B. Boulay

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1838124

6 December 2022

J. Bayleran

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1838124

6 December 2022

P. Hechtman

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1838124

6 December 2022

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1838124

6 December 2022

publication date

1 January 1991

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838124%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

full work available at URL

https://onlinelibrary.wiley.com/doi/pdf/10.1007/BF01799939

1 reference

10.1007/BF01799939

https://api.crossref.org/works/10.1007/BF01799939

6 December 2022

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838124%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

14

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838124%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838124%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

707-714

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838124%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

https://scigraph.springernature.com/pub.10.1007/bf01799939

0 references

Detection of sickle cell anaemia and thalassaemias

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Ligase-Mediated Gene Detection Technique

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel ochre mutation in the beta-thalassemia gene of a Thai. Identification by direct cloning of the entire beta-globin gene amplified using polymerase chain reactions

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tay-Sachs disease in Quebec: evidence for a geographic aggregate in the French-Canadian population and identification of a new retardation syndrome with possible linkage to the Tay-Sachs gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic heteroduplexes: simple detection of carriers of a 4-bp insertion mutation in Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The application of an automated hexosaminidase assay to genetic screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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