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Ile225Thr loop mutation in thelipoprotein lipase (LPL) gene is a de novo event
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
title
Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
author
Michael R. Hayden
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
author name string
H E Henderson
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
S M Bijvoet
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
M A Mannens
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
T Bruin
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
D W Erkelens
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
J J Kastelein
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
publication date
1 July 1998
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
volume
78
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
page(s)
313-316
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
cites work
DNA polymorphism and molecular pathology of the human globin gene clusters
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
HindIII-polymorphism in the LPL-gene detected by PCR.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
A New Mutation Destroying Disulphide Bridging in the C-Terminal Domain of Lipoprotein Lipase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
PCR assay for a polymorphic PvuII site in the LPL gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
Molecular pathobiology of the human lipoprotein lipase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
A novel nonsense mutation in exon 1 and a transition in intron 3 of the lipoprotein lipase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
Regulation of lipoprotein lipase in the diabetic rat.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C313%3A%3AAID-AJMG1%3E3.0.CO%3B2-M
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19980724)78:4<313::AID-AJMG1>3.0.CO;2-M
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
PubMed ID
9714430
1 reference
stated in
Europe PubMed Central
PubMed ID
9714430
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714430%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
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