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English
Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease
scientific article published on 01 January 1994
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7951261
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951261%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
title
Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7951261
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951261%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
main subject
Tay-Sachs disease
1 reference
based on heuristic
inferred from title
author name string
Tomczak J
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7951261
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951261%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Grebner EE
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7951261
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951261%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
publication date
1 January 1994
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7951261
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951261%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7951261
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951261%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
volume
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7951261
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951261%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7951261
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951261%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
page(s)
71-72
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7951261
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951261%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 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.1380040112
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
How sensitive is PCR-SSCP?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040112
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040112
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040112
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380040112
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7951261
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951261%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
PubMed publication ID
7951261
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7951261
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951261%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
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