(Q57840122)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8125488%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8125488%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

1 reference

5

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25 October 2019

author name string

S M Bijvoet

1

1 reference

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25 October 2019

T Bruin

2

1 reference

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25 October 2019

S Tuzgöl

3

1 reference

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25 October 2019

H D Bakker

4

1 reference

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25 October 2019

J J Kastelein

6

1 reference

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25 October 2019

publication date

1 March 1994

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25 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8125488%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

93

1 reference

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25 October 2019

issue

3

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25 October 2019

page(s)

339-343

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https://scigraph.springernature.com/pub.10.1007/bf00212035

25 October 2019

exact match

0 references

cites work

Structure of the human lipoprotein lipase gene

1 reference

12 December 2020

Structural features of lipoprotein lipase. Lipase family relationships, binding interactions, non-equivalence of lipase cofactors, vitellogenin similarities and functional subdivision of lipoprotein lipase

1 reference

12 December 2020

Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21

1 reference

12 December 2020

Structural and functional roles of highly conserved serines in human lipoprotein lipase. Evidence that serine 132 is essential for enzyme catalysis.

1 reference

12 December 2020

A comprehensive evaluation of the heparin-manganese precipitation procedure for estimating high density lipoprotein cholesterol

1 reference

12 December 2020

Organization of the human lipoprotein lipase gene and evolution of the lipase gene family

1 reference

12 December 2020

Human lipoprotein lipase complementary DNA sequence.

1 reference

12 December 2020

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

1 reference

12 December 2020

HindIII-polymorphism in the LPL-gene detected by PCR.

1 reference

12 December 2020

Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase.

1 reference

12 December 2020

Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population.

1 reference

12 December 2020

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

12 December 2020

Genomic organization of the region encoding guinea pig lipoprotein lipase; evidence for exon fusion and unconventional splicing

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

Relationships among serine hydrolases: evidence for a common structural motif in triacylglyceride lipases and esterases

1 reference

12 December 2020

Lipoprotein lipase. A multifunctional enzyme relevant to common metabolic diseases

1 reference

12 December 2020

Human adipose tissue lipoprotein lipase: changes with feeding and relation to postheparin plasma enzyme

1 reference

12 December 2020

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

12 December 2020

Effects of gene mutations in lipoprotein and hepatic lipases as interpreted by a molecular model of the pancreatic triglyceride lipase

1 reference

12 December 2020

PCR assay for a polymorphic PvuII site in the LPL gene

1 reference

12 December 2020

Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis

1 reference

12 December 2020

Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene

1 reference

12 December 2020

Fatty acid control of lipoprotein lipase: a link between energy metabolism and lipid transport

1 reference

12 December 2020

DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias

1 reference

12 December 2020

Detection and characterization of the heterozygote state for lipoprotein lipase deficiency

1 reference

12 December 2020

A dual precipitation method for quantitative plasma lipoprotein measurement without ultracentrifugation

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00212035

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8125488%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference