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English
The molecular defect underlying canine fucosidosis.
scientific article published on April 1996
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
title
The molecular defect underlying canine fucosidosis
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
author
David R Sargan
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
author name string
B J Skelly
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
M E Herrtage
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
B G Winchester
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
language of work or name
English
0 references
publication date
1 April 1996
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
volume
33
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
issue
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
page(s)
284-288
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
cites work
Fucosidosis: four new mutations and a new polymorphism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
A 5' splice site mutation in fucosidosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
A single-base deletion mutation in a Turkish patient with fucosidosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
The enzymic defect and storage products in canine fucosidosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Fucosidosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
A rapid method for the purification of DNA from blood
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Correction of enzyme deficiency by allogeneic bone marrow transplantation following total lymphoid irradiation in dogs with lysosomal storage disease (fucosidosis).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Canine alpha-L-fucosidase in relation to the enzymic defect and storage products in canine fucosidosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Human alpha-L-fucosidase: complete coding sequence from cDNA clones
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Fucosidosis revisited: a review of 77 patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Structure and sequence of the human α-l-fucosidase gene and pseudogene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Reverse transcription and DNA amplification by a Thermus thermophilus DNA polymerase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Amelioration of clinical disease following bone marrow transplantation in fucosidase-deficient dogs.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Correction of alpha-L-fucosidase deficiency in fucosidosis fibroblasts by retroviral vector-mediated gene transfer
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
27 May 2018
Allogeneic bone marrow transplantation for fucosidosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
16 August 2018
A nonsense mutation in two German patients with fucosidosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
16 August 2018
A suspected new canine storage disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
16 August 2018
Age at marrow transplantation is critical for successful treatment of canine fucosidosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050576
retrieved
16 August 2018
Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8730282
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The clinical effects of lysosomal enzyme replacement by bone marrow transplantation after total lymphoid irradiation on neurologic disease in fucosidase deficient dogs
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8730282
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Neuronal storage disease in English springer spaniels
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8730282
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.33.4.284
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
PMC publication ID
1050576
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
PubMed publication ID
8730282
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050576
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8730282%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
ResearchGate publication ID
14472741
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