Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres.

Thrombosis and haemostasis - 1 May 1994

Saad S, Rowley G, Tagliavacca L, Green P M, Giannelli F

Abstract excerpt

In order to obtain complete success in the carrier and prenatal diagnoses required for genetic counselling in haemophilia B a new strategy is being implemented in the UK. This entails the construction of a national confidential database of mutations, pedigrees and haematological data. This will allow the inefficient indirect tests based on the analysis of DNA polymorphisms to be abandoned and direct detection of...

Topics

Databases, Factual
Female
Hemophilia B
Humans
Male
Mutation
Pedigree
Retrospective Studies
United Kingdom

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8091381

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8091381-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres.PMID 8091381Read ↗

Mutation analysis and genetic service: the construction and use of national confidential databases of mutations and pedigrees.Semantic proximity Read ↗

The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.Semantic proximity Read ↗

The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.Semantic proximity Read ↗

Haemophilia A mutations in the UK: results of screening one-third of the population.Semantic proximity Read ↗

Genetics and molecular biology of haemophilias A and B.Semantic proximity Read ↗

Haemophilia. Gene mutations and pedigrees.Semantic proximity Read ↗

A new strategy for carrier and prenatal diagnosis and molecular studies in haemophilia B.Semantic proximity Read ↗

A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model.Semantic proximity Read ↗

Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.Semantic proximity Read ↗

Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity.Semantic proximity Read ↗

Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.Semantic proximity Read ↗

Haemophilia B: database of point mutations and short additions and deletions.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.