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English
Missense mutation (I143T) in a Japanese patient with Canavan disease
scientific article published on 01 January 1998
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
title
Missense mutation (I143T) in a Japanese patient with Canavan disease
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
main subject
Canavan disease
1 reference
based on heuristic
inferred from title
author name string
K Kobayashi
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
S Tsujino
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
T Ezoe
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
H Hamaguchi
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
K Nihei
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
N Sakuragawa
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
publication date
1 January 1998
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
volume
Suppl 1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
page(s)
S308-9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
cites work
A case of Canavan disease: the first biochemically proven case in a Japanese girl
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110196
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110196
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110196
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110196
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110196
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110196
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380110196
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
PubMed publication ID
9452117
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452117
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
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