Evidence map›Paper›PMID 9577377›Full record

Trial reportJournal of clinical pathology1998

Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis.

D Baty, A Terron Kwiatkowski, D Mechan, A Harris, M J Pippard, D Goudie

Open access · bronzeAbstract readClinical TrialControlled Clinical Trial
In one paragraph

Trial report in Journal of clinical pathology, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.6field-weighted citation impact, top 10% 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

7 citing papers in PubMed, 32 citations in OpenAlex.

  1. Article
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  3. Article
  4. Article
  5. Article
  6. Efficient recovery of DNA from peripheral blood for diagnostic analysis with a vacuum manifold.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2000
    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

6 authors at 1 institution in 1 country.

D BatyMolecular Genetics Laboratory, Ninewells Hospital and Medical School, Dundee, UK.
A Terron Kwiatkowski
D Mechan
A Harris
M J Pippard
D Goudie
Ninewells Hospital · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic testing for hereditary haemochromatosis is likely to be a significant workload for diagnostic laboratories. The C282Y and H63D mutations in the HFE gene associated with hereditary haemochromatosis have previously been detected using a number of methods including alterations in the restriction digest pattern of polymerase chain reaction (PCR) amplified products. An amplification refractory mutation system (ARMS) has been developed that will simultaneously detect both hereditary haemochromatosis mutations. Comparison of the results obtained from the analysis of 46 samples referred for hereditary haemochromatosis testing showed no discrepancies between ARMS and restriction enzyme digestion. Furthermore, consistent results were obtained by ARMS from both blood and buccal mouthwash samples. The ARMS test is quicker and less expensive in terms of consumables and scientist time than restriction enzyme analysis, and is therefore suited to the routine diagnostic analysis of hereditary haemochromatosis.

Indexed as

Chromosomes, Human, Pair 6Point MutationCheekDNA Mutational AnalysisGenes, MHC Class IHemochromatosisHumansPolymerase Chain ReactionRestriction MappingTherapeutic Irrigation

Identifiers

PMID9577377
PMCPMC500436
OpenAlexW2128049446

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.