ArticleThe Journal of clinical investigation1989
A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency.
Article in The Journal of clinical investigation, 1989. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 57 citations in OpenAlex.
- Review
- Pancreatitis as a Main Consequence ofInternational journal of genomics · 2024Article
- A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.Lipids in health and disease · 2016Article
- Article
- Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.American journal of human genetics · 1998Article
- Electrophoretic screening for human apolipoprotein C-II variants: repeated identification of apolipoprotein C-II(K19T).Journal of molecular medicine (Berlin, Germany) · 1995Article
- The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.American journal of human genetics · 1995Article
- Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana.Journal of medical genetics · 1994Article
- Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.The Journal of clinical investigation · 1994Article
- Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.The Journal of clinical investigation · 1993Article
- Apo C-II deficiency type Bari.European journal of epidemiology · 1992Article
- Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.The Journal of clinical investigation · 1991Article
- Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema.The Journal of clinical investigation · 1991Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The apo C-II gene from a patient with apo C-II deficiency has been sequenced after amplification by the polymerase chain reaction. A substitution of an adenosine for a guanosine at position 3002 in exon 3 of the patient's gene was identified by sequence analysis. This mutation leads to the introduction of a premature termination codon (TAA) at a position corresponding to amino acid 37 of mature apo C-II and to the formation of a new Rsa I restriction enzyme site not present in the normal apo C-II gene. Amplification of DNA from family members by the polymerase chain reaction and digestion with Rsa I established that the patient is a true homozygote for the mutation. Analysis of the patient's plasma by two-dimensional gel electrophoresis and immunoblotting detected an apo C-II that exhibited abnormal electrophoretic mobility. We propose that the C to A substitution in the apo C-IIPadova gene is the primary genetic defect that leads to premature termination and the synthesis of a truncated 36 amino acid apo C-II that is unable to activate lipoprotein lipase.
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