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English
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)
scientific article published on 01 January 1994
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
title
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
main subject
glycogen storage disease
1 reference
based on heuristic
inferred from title
author name string
Huie ML
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
Hirschhorn R
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
Chen AS
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
Martiniuk F
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
Zhong N
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
publication date
1 January 1994
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
volume
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
page(s)
291-293
1 reference
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Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
cites work
Homology of lysosomal enzymes and related proteins: prediction of posttranslational modification sites including phosphorylation of mannose and potential epitopic and substrate binding sites in the alpha- and beta-subunits of hexosaminidases, alpha-
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040410
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation of a cDNA probe for a human jejunal brush-border hydrolase, sucrase-isomaltase, and assignment of the gene locus to chromosome 3.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040410
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040410
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of the human lysosomal alpha-glucosidase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040410
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040410
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The sucrase-isomaltase complex: primary structure, membrane-orientation, and evolution of a stalked, intrinsic brush border protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040410
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary structure and processing of the Candida tsukubaensis alpha-glucosidase. Homology with the rabbit intestinal sucrase-isomaltase complex and human lysosomal alpha-glucosidase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040410
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040410
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040410
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040410
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Striking structural and functional similarities suggest that intestinal sucrase-isomaltase, human lysosomal α-glucosidase and Schwanniomyces occidentalis glucoamylase are derived from a common ancestral gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040410
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380040410
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
PubMed publication ID
7866409
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866409
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866409%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
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