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An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease
scientific article published on 01 January 1992
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
title
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
main subject
Tay-Sachs disease
1 reference
based on heuristic
inferred from title
author name string
Shore S
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
Tomczak J
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
Grebner EE
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
Myerowitz R
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
language of work or name
English
1 reference
stated in
National Center for Biotechnology Information
PubMed publication ID
1301958
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1301958
retrieved
10 September 2022
publication date
1 January 1992
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
volume
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
issue
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
page(s)
486-490
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 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.1380010606
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.1380010606
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.1380010606
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380010606
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid purification of plasmid DNA by a single centrifugation in a two-step cesium chloride-ethidium bromide gradient
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380010606
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.1380010606
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380010606
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380010606
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.1380010606
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380010606
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.1380010606
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.1380010606
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.1380010606
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380010606
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380010606
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
PubMed publication ID
1301958
1 reference
stated in
Europe PubMed Central
PubMed publication ID
1301958
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 September 2019
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