Evidence map›Paper›PMID 9012412›Full record

ArticleAmerican journal of human genetics1997

Sequence variation at the phenylalanine hydroxylase gene in the British Isles.

L A Tyfield, A Stephenson, F Cockburn, A Harvie, J L Bidwell, N A Wood, D T Pilz, P Harper, I Smith

Abstract readComparative Study
In one paragraph

Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
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

9 authors.

L A TyfieldSouthmead Hospital, Bristol, United Kingdom.
A Stephenson
F Cockburn
A Harvie
J L Bidwell
N A Wood
D T Pilz
P Harper
I Smith

Funding

Wellcome Trust
6 · The paper itself

Abstract

Using mutation and haplotype analysis, we have examined the phenylalanine hydroxylase gene in the phenylketonuria populations of four geographical areas of the British Isles: the west of Scotland, southern Wales, and southwestern and southeastern England. The enormous genetic diversity of this locus within the British Isles is demonstrated in the large number of different mutations characterized and in the variety of genetic backgrounds on which individual mutations are found. Allele frequencies of the more common mutations exhibited significant nonrandom distribution in a north/south differentiation. Differences between the west of Scotland and southwestern England may be related to different events in the recent and past histories of their respective populations. Similarities between southern Wales and southeastern England are likely to reflect the heterogeneity that is seen in and around two large capital cities. Finally, comparison with more recently colonized areas of the world corroborates the genealogical origin by range expansion of several mutations.

Indexed as

Genetic VariationMutationAllelesCluster AnalysisDNA Mutational AnalysisEnglandExonsHaplotypesHumansMinisatellite RepeatsNucleic Acid HeteroduplexesPhenylalanine HydroxylasePhenylketonuriasPolymorphism, Single-Stranded ConformationalScotlandWalesNucleic Acid HeteroduplexesPhenylalanine Hydroxylase

Identifiers

PMID9012412
PMCPMC1712390

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.