Evidence map›Paper›PMID 7616552›Full record

ArticleJournal of medical genetics1995

A family study describing second cousins with cystic fibrosis and no common ancestor who is a carrier.

V M Park, M E Smith, M T Knight, M J Rock

Open access · bronzeAbstract read
In one paragraph

Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 31% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

V M ParkDepartment of Pediatrics, University of Tennessee, Memphis 38163, USA.
M E Smith
M T Knight
M J Rock
University of Tennessee Health Science Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe an extended pedigree in which second cousins are affected with cystic fibrosis (CF). Since the degree of relationship of the affected subjects is 1/32, common descent of one CF mutation was expected when the DNA laboratory undertook mutation analysis. Mutation testing showed that each CF mutation was introduced into the family by random mating and not by descent through a common ancestor. Implications for pedigree analysis and DNA testing are discussed.

Indexed as

HeterozygoteCystic FibrosisFemaleGenetic Carrier ScreeningHumansMaleMutationPedigree

Identifiers

PMID7616552
PMCPMC1050440
OpenAlexW2132587788

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.