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English
A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping
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
10399108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399108%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
title
A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10399108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399108%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
author name string
M B Coulter-Mackie
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10399108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399108%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
publication date
1 June 1999
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10399108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399108%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
published in
Journal of Inherited Metabolic Disease
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10399108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399108%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
volume
22
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10399108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399108%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10399108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399108%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
page(s)
682-683
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10399108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399108%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
exact match
https://scigraph.springernature.com/pub.10.1023/a:1005563004678
0 references
cites work
Three-dimensional structure of human lysosomal aspartylglucosaminidase
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10399108
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The regulation of splice-site selection, and its role in human disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10399108
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Aspartylglucosaminuria in a Canadian family.
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10399108
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1023/A:1005563004678
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10399108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399108%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
Dimensions Publication ID
1026385126
0 references
PubMed publication ID
10399108
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10399108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399108%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
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