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English
Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease
scientific article published on 01 March 2002
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
title
Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
main subject
Gaucher's disease
1 reference
based on heuristic
inferred from title
author name string
F Y M Choy
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
A Vaags
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
K Wong
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
D Macgregor
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
B Fernandez
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
C Prasad
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
publication date
1 March 2002
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
published in
Clinical Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
volume
61
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
page(s)
229-231
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
cites work
METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610312.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hematologically important mutations: Gaucher disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610312.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis of Gaucher disease using dot-blood samples on FTA filter paper
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610312.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610312.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610312.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610312.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gaucher disease in Spanish patients: Analysis of eight mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610312.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610312.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1034/J.1399-0004.2002.610312.X
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
PubMed ID
12000368
1 reference
stated in
Europe PubMed Central
PubMed ID
12000368
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12000368%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
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