Evidence map›Paper›PMID 2216713›Full record

ArticleNucleic acids research1990

Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene.

A Hata, M Robertson, M Emi, J M Lalouel

Open access · greenAbstract read
In one paragraph

Article in Nucleic acids research, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 1 pooled it
12.6field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed, 1 synthesis or guideline pooled it, 185 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Genetic determinants of plasma triglycerides.Journal of lipid research · 2011
    Review
  6. Article
  7. APOE, CETP and LPL genes show strong association with lipid levels in Greek children.Nutrition, metabolism, and cardiovascular diseases : NMCD · 2010
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Prevention of hyperlipidemic acute pancreatitis during pregnancy with medium-chain triglyceride nutritional support.International journal of pancreatology : official journal of the International Association of Pancreatology · 1998
    Article
  16. Article
  17. Article
  18. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

A HataHoward Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City 84132.
M Robertson
M Emi
J M Lalouel
Howard Hughes Medical Institute · USUniversity of Utah · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Large-scale screening by direct sequencing of DNA to detect molecular variants remains a laborious endeavor whose difficulty is compounded by heterozygosity. We show that mobility shifts of single-stranded DNA electrophoresed under nondenaturing conditions can be used not only to detect variants (Orita,M. et al., 1989, Genomics, 5, 874-879), but also to separate and sequence directly individual alleles. In this manner, we have identified a common variant of human lipoprotein lipase resulting from a nonsense mutation in exon 9 of the gene. Whether this variant is of functional significance remains to be determined.

Indexed as

ExonsMutationAllelesAmino Acid SequenceBase SequenceElectrophoresisGenesHeterozygoteHumansHypertriglyceridemiaLipoprotein LipaseMolecular Sequence DataPolymerase Chain ReactionLipoprotein Lipase

Identifiers

PMID2216713
PMCPMC332217
OpenAlexW2169253083

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.