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English
Novel missense mutation (Y231C) in a turkish patient with canavan disease
scientific article published on 01 November 1999
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
title
Novel missense mutation (Y231C) in a turkish patient with canavan disease
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
main subject
Canavan disease
1 reference
based on heuristic
inferred from title
author name string
P L Rady
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
T Vargas
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
S K Tyring
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
R Matalon
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
U Langenbeck
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
publication date
1 November 1999
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
volume
87
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
page(s)
273-275
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
cites work
Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish Population
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991126%2987%3A3%3C273%3A%3AAID-AJMG17%3E3.0.CO%3B2-O
retrieved
21 January 2018
Proof of "disease causing" mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991126%2987%3A3%3C273%3A%3AAID-AJMG17%3E3.0.CO%3B2-O
retrieved
21 January 2018
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%2F%28SICI%291096-8628%2819991126%2987%3A3%3C273%3A%3AAID-AJMG17%3E3.0.CO%3B2-O
retrieved
21 January 2018
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%2F%28SICI%291096-8628%2819991126%2987%3A3%3C273%3A%3AAID-AJMG17%3E3.0.CO%3B2-O
retrieved
21 January 2018
Missense mutation (I143T) in a Japanese patient with Canavan disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991126%2987%3A3%3C273%3A%3AAID-AJMG17%3E3.0.CO%3B2-O
retrieved
21 January 2018
Canavan disease: biochemical and molecular studies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991126%2987%3A3%3C273%3A%3AAID-AJMG17%3E3.0.CO%3B2-O
retrieved
21 January 2018
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%2F%28SICI%291096-8628%2819991126%2987%3A3%3C273%3A%3AAID-AJMG17%3E3.0.CO%3B2-O
retrieved
21 January 2018
Molecular basis of Canavan disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991126%2987%3A3%3C273%3A%3AAID-AJMG17%3E3.0.CO%3B2-O
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19991126)87:3<273::AID-AJMG17>3.0.CO;2-O
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
PubMed publication ID
10564886
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10564886
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10564886%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
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