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Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification
scientific article published on 01 January 1993
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318986
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318986%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
title
Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318986
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318986%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
main subject
Fabry disease
1 reference
based on heuristic
inferred from title
author
Robert J. Desnick
series ordinal
2
object named as
Desnick RJ
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318986
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318986%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
author name string
Kornreich R
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318986
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318986%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
publication date
1 January 1993
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318986
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318986%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
8318986
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318986%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
volume
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318986
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318986%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318986
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318986%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
page(s)
108-111
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318986
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318986%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
cites work
Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020208
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020208
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020208
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020208
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020208
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nucleotide sequence of the human alpha-galactosidase A gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020208
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020208
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380020208
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318986
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318986%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
PubMed publication ID
8318986
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318986
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318986%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
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