Evidence map›Paper›PMID 8076948›Full record

ArticleHuman genetics1994

Germ line origins of de novo mutations in hemophilia B families.

A R Thompson, S H Chen

Abstract read
PubMed Publisher
In one paragraph

Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

2 authors.

A R ThompsonPuget Sound Blood Center, Seattle, WA.
S H Chen

Funding

PATHOBIOLOGY OF HUMAN FACTOR IX: STRUCTURE AND FUNCTIONR01HL031193 · NHLBI · UNIVERSITY OF WASHINGTON · PI THOMPSON, ARTHUR · 1985 to 1993
–
NHLBI NIH HHS HL-31193
6 · The paper itself

Abstract

The germ line of origin for 13 of 14 de novo hemophilia B mutations has been determined. When added to previous reports, the origin, assuming no mosaicism, occurred in 43 female and 33 male gametes. Mutation rate estimates are twofold higher in males than in females. The pooled data also indicate that male and female germ lines have different mutation rates depending upon the type of mutation.

Indexed as

Germ-Line MutationDNA Mutational AnalysisFactor IXFemaleGenetic Carrier ScreeningHemophilia BHumansMaleFactor IX

Identifiers

PMID8076948

What OpenQuestion holds

Textmetadata
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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.