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Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients
scientific article published on 01 June 1999
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
title
Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
main subject
Gaucher's disease
1 reference
based on heuristic
inferred from title
author name string
F Y Choy
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
K Wong
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
H P Shi
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
publication date
1 June 1999
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
volume
84
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
page(s)
484-486
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
cites work
Hematologically important mutations: Gaucher disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
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/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
Corneal opacities in Gaucher disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
The human glucocerebrosidase gene and pseudogene: structure and evolution
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
Mutation screening of 17 Japanese patients with neuropathic Gaucher disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher Disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C484%3A%3AAID-AJMG14%3E3.0.CO%3B2-W
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19990611)84:5<484::AID-AJMG14>3.0.CO;2-W
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
PubMed publication ID
10360404
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360404
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360404%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
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