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English
Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A
scientific article published on 01 January 1993
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8257995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8257995%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
title
Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8257995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8257995%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
main subject
Tay-Sachs disease
1 reference
based on heuristic
inferred from title
author name string
Drucker L
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8257995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8257995%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
Navon R
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8257995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8257995%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
publication date
1 January 1993
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8257995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8257995%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8257995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8257995%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
volume
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8257995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8257995%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8257995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8257995%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
page(s)
415-417
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8257995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8257995%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
cites work
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020514
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of an altered splice site in Ashkenazi Tay-Sachs disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020514
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nonsense mutations in the human beta-globin gene affect mRNA metabolism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020514
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemistry and Genetics of Tay-Sachs Disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020514
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020514
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020514
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020514
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020514
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020514
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380020514
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8257995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8257995%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
PubMed publication ID
8257995
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8257995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8257995%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
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