(Q74127762)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

L Foubert

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J L De Gennes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

P Benlian

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J Truffert

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

L Miao

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M R Hayden

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 January 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

S141-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

Detection and characterization of the heterozygote state for lipoprotein lipase deficiency

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

Comparison of the serum low density lipoprotein and of its apoprotein in the pig, rhesus monkey and baboon with that in man

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

COOH-terminal disruption of lipoprotein lipase in mice is lethal in homozygotes, but heterozygotes have elevated triglycerides and impaired enzyme activity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice. Mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

The response-to-retention hypothesis of early atherogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110148

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110148

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452069%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference