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

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.

Human genetics - 1 Apr 1992

Reiner A P, Thompson A R

Abstract excerpt

Despite marked genetic heterogeneity in families with hemophilic patients, transition mutations in CG dinucleotides occur frequently. Of 71 CG dinucleotides in the factor VIII cDNA, a C-to-T transition in 12 would lead to a new Stop codon (CGA to TGA). Using restriction enzyme digestion of 11 amplified DNA fragments, seven point mutations were localized among 60 patients with severe hemophilia A. Five were...

Topics

Base Sequence
Factor VIII
Female
Genetic Carrier Screening
Genetic Testing
Hemophilia A
Humans
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1349567
DOI: 10.1007/BF00207049

Genes

CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1349567-2026-08-29.1. 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

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.PMID 1349567Read ↗

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.Semantic proximity Read ↗

Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.Semantic proximity Read ↗

T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.Semantic proximity Read ↗

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.Semantic proximity Read ↗

Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.Semantic proximity Read ↗

The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI.Semantic proximity Read ↗

Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.Semantic proximity Read ↗

Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis.Semantic proximity Read ↗

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.Semantic proximity Read ↗

Mutations in haemophilia A.Semantic proximity Read ↗

The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene.Semantic proximity Read ↗

Identification of mutations in two families with sporadic hemophilia A.Semantic proximity Read ↗

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