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Complex arylsulfatase A alleles causing metachromatic leukodystrophy
scientific article published on 01 January 1994
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
title
Complex arylsulfatase A alleles causing metachromatic leukodystrophy
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
main subject
metachromatic leukodystrophy
1 reference
based on heuristic
inferred from title
author name string
Kappler J
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Sommerlade HJ
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
von Figura K
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Gieselmann V
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
publication date
1 January 1994
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
volume
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
page(s)
119-127
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
cites work
Vectors for efficient expression in mammalian fibroblastoid, myeloid and lymphoid cells via transfection or infection.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the arylsulfatase A gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
2 New M13 vectors for cloning
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inhibition of restriction endonuclease Nci I cleavage by phosphorothioate groups and its application to oligonucleotide-directed mutagenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Population frequency of the arylsulphatase A pseudo-deficiency allele
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of different forms of metachromatic leukodystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DNA sequencing with chain-terminating inhibitors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040205
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380040205
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
PubMed publication ID
7981715
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981715%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
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