Evidence map›Paper›PMID 1383546›Full record

ArticleJournal of medical genetics1992

Identification of a new DMD gene deletion by ectopic transcript analysis.

F Rininsland, A Hahn, S Niemann-Seyde, R Slomski, F Hanefeld, J Reiss

Abstract readCase Reports
In one paragraph

Article in Journal of medical genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
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

6 authors.

F RininslandInstitut für Humangenetik, Universitätskliniken, Göttingen, Germany.
A Hahn
S Niemann-Seyde
R Slomski
F Hanefeld
J Reiss

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The detailed genetic analysis of the Duchenne/Becker muscular dystrophy gene is hindered by the large number of exons involved and their separation by huge introns. These problems can be overcome by the analysis of mRNA rather than genomic DNA and ectopic transcripts derived from peripheral blood lymphocytes provide a convenient source of material. Using reverse transcription and nested PCR, we show here a comprehensive strategy for the rapid and complete analysis of the coding sequences from complex genes and illustrate its potential by the identification of a hitherto undescribed single exon deletion.

Indexed as

Polymerase Chain ReactionSequence DeletionBase SequenceChild, PreschoolDNADystrophinExonsHumansLymphocytesMaleMolecular Sequence DataMuscular DystrophiesRNA-Directed DNA PolymeraseRNA, MessengerTranscription, GeneticDNADystrophinRNA-Directed DNA PolymeraseRNA, Messenger

Identifiers

PMID1383546
PMCPMC1016097

What OpenQuestion holds

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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.