A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency (Q24620852)

2

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C Parrott

3

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G Baggio

4

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C Gabelli

5

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F Thomas

6

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J Hoffman

7

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H B Brewer

Journal of Clinical Investigation

8

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language of work or name

English

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publication date

October 1989

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published in

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volume

84

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issue

4

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page(s)

1215-9

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cites work

Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients

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Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease

7 April 2017

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Human plasma apolipoprotein C-II: total solid-phase synthesis and chemical and biological characterization

7 April 2017

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Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein

7 April 2017

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Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency

7 April 2017

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Activation of lipoprotein lipase by native and synthetic fragments of human plasma apolipoprotein C-II

7 April 2017

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Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing

7 April 2017

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Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

7 April 2017

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A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II

7 April 2017

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The human preproapolipoprotein C-II gene. Complete nucleic acid sequence and genomic organization

7 April 2017

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C-II anapolipoproteinemia and severe hypertriglyceridemia. Report of a rare case with absence of C-II apolipoprotein isoforms and review of the literature

7 April 2017

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Hybridization of nucleic acids immobilized on solid supports

27 September 2017

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Ultrasensitive stain for proteins in polyacrylamide gels shows regional variation in cerebrospinal fluid proteins

27 September 2017

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Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG).

27 September 2017

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Nonsense mutations in the human beta-globin gene affect mRNA metabolism

27 September 2017

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Control of Transcription Termination

27 September 2017

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Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency

27 September 2017

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Hypertriglyceridemia Associated with Deficiency of Apolipoprotein C-II

27 September 2017

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Combined deficiency of apolipoprotein C-II and lipoprotein lipase in familial hyperchylomicronemia

30 May 2018

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Familial apolipoprotein CII deficiency: plasma lipoproteins and apolipoproteins in heterozygous and homozygous subjects and the effects of plasma infusion

28 November 2018

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12 December 2020

Familial chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity

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12 December 2020

Plasma lipids, lipoproteins and apoproteins in a case of apo C-II deficiency

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12 December 2020

Amino acid sequence of human plasma apolipoprotein C-II from normal and hyperlipoproteinemic subjects

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12 December 2020

Beta O-39 thalassemia gene: a premature termination codon causes beta-mRNA deficiency without affecting cytoplasmic beta-mRNA stability

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12 December 2020

Analysis of the apoC-II gene in apoC-II deficient patients

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12 December 2020

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum

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12 December 2020

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

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12 December 2020

Apolipoprotein C-II deficiency: Identification of a structural variant apoC-IIPadova

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12 December 2020

Autoimmune hyperchylomicronemia

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12 December 2020