(Q24318860)

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Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency

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title

Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency (English)

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main subject

Lipase C, hepatic type

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GOA release 2020-03-11

triglyceride homeostasis

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GOA release 2020-03-11

hyperlipidemia due to hepatic triglyceride lipase deficiency

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1 reference

1

R A Hegele

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author name string

J A Little

series ordinal

2

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P W Connelly

series ordinal

3

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language of work or name

English

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publication date

30 August 1991

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published in

Biochemical and Biophysical Research Communications

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volume

179

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issue

1

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page(s)

78-84

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cites work

Evidence for the role of hepatic endothelial lipase in the metabolism of plasma high density lipoprotein2 in man.

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https://api.crossref.org/works/10.1016%2F0006-291X%2891%2991336-B

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7 January 2021

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Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase

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Crossref

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https://api.crossref.org/works/10.1016%2F0006-291X%2891%2991336-B

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7 January 2021

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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https://api.crossref.org/works/10.1016%2F0006-291X%2891%2991336-B

retrieved

7 January 2021

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Structure of the human hepatic triglyceride lipase gene

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https://api.crossref.org/works/10.1016%2F0006-291X%2891%2991336-B

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7 January 2021

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Lipases reach the surface

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7 January 2021

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A model for interfacial activation in lipases from the structure of a fungal lipase-inhibitor complex

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https://api.crossref.org/works/10.1016%2F0006-291X%2891%2991336-B

retrieved

7 January 2021

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Deficiency of hepatic lipase activity in post-heparin plasma in familial hyper-alpha-triglyceridemia.

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https://api.crossref.org/works/10.1016%2F0006-291X%2891%2991336-B

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7 January 2021

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Human hepatic triglyceride lipase: cDNA cloning, amino acid sequence and expression in a cultured cell line

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https://api.crossref.org/works/10.1016%2F0006-291X%2891%2991336-B

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7 January 2021

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Plasma lipoproteins in familial hepatic lipase deficiency

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https://api.crossref.org/works/10.1016%2F0006-291X%2891%2991336-B

retrieved

7 January 2021

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A hepatic lipase gene mutation associated with heritable lipolytic deficiency

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retrieved

7 January 2021

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Identifiers

DOI

10.1016/0006-291X(91)91336-B

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PubMed publication ID

1883393

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(Q24318860)

Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency

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